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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: 11-71437909-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71437909&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 71437909,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355527.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "NM_001360.3",
"protein_id": "NP_001351.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": "ENST00000355527.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "ENST00000355527.8",
"protein_id": "ENSP00000347717.4",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": "NM_001360.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "ENST00000407721.6",
"protein_id": "ENSP00000384739.2",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Ile",
"transcript": "ENST00000685320.1",
"protein_id": "ENSP00000509319.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 280,
"cds_start": 281,
"cds_end": null,
"cds_length": 843,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Thr74Ile",
"transcript": "ENST00000534795.5",
"protein_id": "ENSP00000432256.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 115,
"cds_start": 221,
"cds_end": null,
"cds_length": 348,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.917C>T",
"hgvs_p": "p.Thr306Ile",
"transcript": "NM_001425107.1",
"protein_id": "NP_001412036.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 492,
"cds_start": 917,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.917C>T",
"hgvs_p": "p.Thr306Ile",
"transcript": "ENST00000682708.1",
"protein_id": "ENSP00000506866.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 492,
"cds_start": 917,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Thr301Ile",
"transcript": "NM_001425108.1",
"protein_id": "NP_001412037.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 487,
"cds_start": 902,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Thr301Ile",
"transcript": "ENST00000683287.1",
"protein_id": "ENSP00000507607.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 487,
"cds_start": 902,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "NM_001163817.2",
"protein_id": "NP_001157289.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "NM_001425109.1",
"protein_id": "NP_001412038.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "NM_001425110.1",
"protein_id": "NP_001412039.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "ENST00000525346.6",
"protein_id": "ENSP00000435707.3",
"transcript_support_level": 4,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "ENST00000526780.6",
"protein_id": "ENSP00000435668.2",
"transcript_support_level": 2,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
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"cdna_start": 1334,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "NM_001425111.1",
"protein_id": "NP_001412040.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 471,
"cds_start": 866,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "NM_001425112.1",
"protein_id": "NP_001412041.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 456,
"cds_start": 866,
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"cdna_start": 1101,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Ile",
"transcript": "NM_001425113.1",
"protein_id": "NP_001412042.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 455,
"cds_start": 806,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Thr257Ile",
"transcript": "NM_001425114.1",
"protein_id": "NP_001412043.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 443,
"cds_start": 770,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Thr257Ile",
"transcript": "ENST00000690257.1",
"protein_id": "ENSP00000510750.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 443,
"cds_start": 770,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Thr257Ile",
"transcript": "NM_001425116.1",
"protein_id": "NP_001412045.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 424,
"cds_start": 770,
"cds_end": null,
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"cdna_start": 1005,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Thr231Ile",
"transcript": "NM_001425117.1",
"protein_id": "NP_001412046.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 417,
"cds_start": 692,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Thr231Ile",
"transcript": "ENST00000527316.6",
"protein_id": "ENSP00000435047.2",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 417,
"cds_start": 692,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.866C>T",
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],
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"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.724,
"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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{
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"criteria": [
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"PP3",
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"verdict": "Pathogenic",
"transcript": "ENST00000355527.8",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Inborn genetic diseases,Smith-Lemli-Opitz syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:3",
"phenotype_combined": "Smith-Lemli-Opitz syndrome|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}