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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: 11-71435531-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71435531&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 71435531,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000355527.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "NM_001360.3",
"protein_id": "NP_001351.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": "ENST00000355527.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "ENST00000355527.8",
"protein_id": "ENSP00000347717.4",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": "NM_001360.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "ENST00000407721.6",
"protein_id": "ENSP00000384739.2",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Gly229Gly",
"transcript": "ENST00000685320.1",
"protein_id": "ENSP00000509319.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 280,
"cds_start": 687,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.318+2281C>T",
"hgvs_p": null,
"transcript": "ENST00000534795.5",
"protein_id": "ENSP00000432256.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Gly441Gly",
"transcript": "NM_001425107.1",
"protein_id": "NP_001412036.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 492,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Gly441Gly",
"transcript": "ENST00000682708.1",
"protein_id": "ENSP00000506866.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 492,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Gly436Gly",
"transcript": "NM_001425108.1",
"protein_id": "NP_001412037.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 487,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000683287.1",
"protein_id": "ENSP00000507607.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 487,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "NM_001163817.2",
"protein_id": "NP_001157289.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "NM_001425109.1",
"protein_id": "NP_001412038.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "NM_001425110.1",
"protein_id": "NP_001412039.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "ENST00000525346.6",
"protein_id": "ENSP00000435707.3",
"transcript_support_level": 4,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "ENST00000526780.6",
"protein_id": "ENSP00000435668.2",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly",
"transcript": "NM_001425111.1",
"protein_id": "NP_001412040.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 471,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Gly404Gly",
"transcript": "NM_001425113.1",
"protein_id": "NP_001412042.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 455,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1176C>T",
"hgvs_p": "p.Gly392Gly",
"transcript": "NM_001425114.1",
"protein_id": "NP_001412043.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 443,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1176C>T",
"hgvs_p": "p.Gly392Gly",
"transcript": "ENST00000690257.1",
"protein_id": "ENSP00000510750.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 443,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1098C>T",
"hgvs_p": "p.Gly366Gly",
"transcript": "NM_001425117.1",
"protein_id": "NP_001412046.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 417,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1098C>T",
"hgvs_p": "p.Gly366Gly",
"transcript": "ENST00000527316.6",
"protein_id": "ENSP00000435047.2",
"transcript_support_level": 5,
"aa_start": 366,
"aa_end": null,
"aa_length": 417,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Gly174Gly",
"transcript": "ENST00000533800.5",
"protein_id": "ENSP00000435011.1",
"transcript_support_level": 3,
"aa_start": 174,
"aa_end": null,
"aa_length": 221,
"cds_start": 522,
"cds_end": null,
"cds_length": 666,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "n.1312C>T",
"hgvs_p": null,
"transcript": "ENST00000684396.1",
"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": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.*35C>T",
"hgvs_p": null,
"transcript": "NM_001425112.1",
"protein_id": "NP_001412041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"transcript": "ENST00000525137.1",
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"transcript": "NM_001425121.1",
"protein_id": "NP_001412050.1",
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"feature": null
}
],
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"dbsnp": "rs909217",
"frequency_reference_population": 0.67368317,
"hom_count_reference_population": 390252,
"allele_count_reference_population": 1084991,
"gnomad_exomes_af": 0.686387,
"gnomad_genomes_af": 0.551941,
"gnomad_exomes_ac": 1001000,
"gnomad_genomes_ac": 83991,
"gnomad_exomes_homalt": 364170,
"gnomad_genomes_homalt": 26082,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.755,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355527.8",
"gene_symbol": "DHCR7",
"hgnc_id": 2860,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Gly424Gly"
}
],
"clinvar_disease": "DHCR7-related disorder,Inborn genetic diseases,Smith-Lemli-Opitz syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:10",
"phenotype_combined": "not specified|Smith-Lemli-Opitz syndrome|DHCR7-related disorder|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}