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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: 11-71439055-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71439055&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 71439055,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000355527.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "NM_001360.3",
"protein_id": "NP_001351.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 475,
"cds_start": 655,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": "ENST00000355527.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "ENST00000355527.8",
"protein_id": "ENSP00000347717.4",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 475,
"cds_start": 655,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": "NM_001360.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "ENST00000407721.6",
"protein_id": "ENSP00000384739.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 475,
"cds_start": 655,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.70T>C",
"hgvs_p": "p.Tyr24His",
"transcript": "ENST00000685320.1",
"protein_id": "ENSP00000509319.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 280,
"cds_start": 70,
"cds_end": null,
"cds_length": 843,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Tyr4His",
"transcript": "ENST00000534795.5",
"protein_id": "ENSP00000432256.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 115,
"cds_start": 10,
"cds_end": null,
"cds_length": 348,
"cdna_start": 11,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Tyr236His",
"transcript": "NM_001425107.1",
"protein_id": "NP_001412036.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 492,
"cds_start": 706,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.706T>C",
"hgvs_p": "p.Tyr236His",
"transcript": "ENST00000682708.1",
"protein_id": "ENSP00000506866.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 492,
"cds_start": 706,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Tyr231His",
"transcript": "NM_001425108.1",
"protein_id": "NP_001412037.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 487,
"cds_start": 691,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Tyr231His",
"transcript": "ENST00000683287.1",
"protein_id": "ENSP00000507607.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 487,
"cds_start": 691,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "NM_001163817.2",
"protein_id": "NP_001157289.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 475,
"cds_start": 655,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "NM_001425109.1",
"protein_id": "NP_001412038.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 475,
"cds_start": 655,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "NM_001425110.1",
"protein_id": "NP_001412039.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 475,
"cds_start": 655,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "ENST00000525346.6",
"protein_id": "ENSP00000435707.3",
"transcript_support_level": 4,
"aa_start": 219,
"aa_end": null,
"aa_length": 475,
"cds_start": 655,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "ENST00000526780.6",
"protein_id": "ENSP00000435668.2",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 475,
"cds_start": 655,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "NM_001425111.1",
"protein_id": "NP_001412040.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 471,
"cds_start": 655,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "NM_001425112.1",
"protein_id": "NP_001412041.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 456,
"cds_start": 655,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Tyr199His",
"transcript": "NM_001425113.1",
"protein_id": "NP_001412042.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 455,
"cds_start": 595,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.559T>C",
"hgvs_p": "p.Tyr187His",
"transcript": "NM_001425114.1",
"protein_id": "NP_001412043.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 443,
"cds_start": 559,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.559T>C",
"hgvs_p": "p.Tyr187His",
"transcript": "ENST00000690257.1",
"protein_id": "ENSP00000510750.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 443,
"cds_start": 559,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.559T>C",
"hgvs_p": "p.Tyr187His",
"transcript": "NM_001425116.1",
"protein_id": "NP_001412045.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 424,
"cds_start": 559,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.481T>C",
"hgvs_p": "p.Tyr161His",
"transcript": "NM_001425117.1",
"protein_id": "NP_001412046.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 417,
"cds_start": 481,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.481T>C",
"hgvs_p": "p.Tyr161His",
"transcript": "ENST00000527316.6",
"protein_id": "ENSP00000435047.2",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 417,
"cds_start": 481,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.655T>C",
"hgvs_p": "p.Tyr219His",
"transcript": "ENST00000683714.1",
"protein_id": "ENSP00000508207.1",
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}
],
"gene_symbol": "DHCR7",
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"dbsnp": "rs779896782",
"frequency_reference_population": 6.84119e-7,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.84119e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.8956540822982788,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.871,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.01,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
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"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000355527.8",
"gene_symbol": "DHCR7",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "2-3 toe syndactyly,Elevated circulating 7-dehydrocholesterol concentration,Primary microcephaly,Small for gestational age",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "2-3 toe syndactyly;Elevated circulating 7-dehydrocholesterol concentration;Primary microcephaly;Small for gestational age",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}