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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: 8-18057568-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18057568&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18057568,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000637790.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1154T>G",
"hgvs_p": "p.Leu385Arg",
"transcript": "NM_177924.5",
"protein_id": "NP_808592.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 395,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000637790.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1154T>G",
"hgvs_p": "p.Leu385Arg",
"transcript": "ENST00000637790.2",
"protein_id": "ENSP00000490272.1",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 395,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_177924.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1202T>G",
"hgvs_p": "p.Leu401Arg",
"transcript": "ENST00000381733.9",
"protein_id": "ENSP00000371152.4",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 411,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1136T>G",
"hgvs_p": "p.Leu379Arg",
"transcript": "ENST00000314146.10",
"protein_id": "ENSP00000326970.10",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 389,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1690,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.*1672T>G",
"hgvs_p": null,
"transcript": "ENST00000637244.1",
"protein_id": "ENSP00000490188.1",
"transcript_support_level": 1,
"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": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.*1672T>G",
"hgvs_p": null,
"transcript": "ENST00000637244.1",
"protein_id": "ENSP00000490188.1",
"transcript_support_level": 1,
"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": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1202T>G",
"hgvs_p": "p.Leu401Arg",
"transcript": "NM_004315.6",
"protein_id": "NP_004306.3",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 411,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1148T>G",
"hgvs_p": "p.Leu383Arg",
"transcript": "ENST00000637636.1",
"protein_id": "ENSP00000490112.1",
"transcript_support_level": 5,
"aa_start": 383,
"aa_end": null,
"aa_length": 393,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1136T>G",
"hgvs_p": "p.Leu379Arg",
"transcript": "NM_001127505.3",
"protein_id": "NP_001120977.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 389,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1127T>G",
"hgvs_p": "p.Leu376Arg",
"transcript": "ENST00000637991.1",
"protein_id": "ENSP00000489901.1",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 386,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1097T>G",
"hgvs_p": "p.Leu366Arg",
"transcript": "ENST00000636171.1",
"protein_id": "ENSP00000489761.1",
"transcript_support_level": 5,
"aa_start": 366,
"aa_end": null,
"aa_length": 376,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1094T>G",
"hgvs_p": "p.Leu365Arg",
"transcript": "ENST00000636577.1",
"protein_id": "ENSP00000490027.1",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 375,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1091T>G",
"hgvs_p": "p.Leu364Arg",
"transcript": "ENST00000637528.1",
"protein_id": "ENSP00000490801.1",
"transcript_support_level": 5,
"aa_start": 364,
"aa_end": null,
"aa_length": 374,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1079T>G",
"hgvs_p": "p.Leu360Arg",
"transcript": "ENST00000520781.6",
"protein_id": "ENSP00000427751.1",
"transcript_support_level": 2,
"aa_start": 360,
"aa_end": null,
"aa_length": 370,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "ENST00000636815.1",
"protein_id": "ENSP00000490270.1",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 367,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1067T>G",
"hgvs_p": "p.Leu356Arg",
"transcript": "ENST00000636997.1",
"protein_id": "ENSP00000490093.1",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 366,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.959T>G",
"hgvs_p": "p.Leu320Arg",
"transcript": "NM_001363743.2",
"protein_id": "NP_001350672.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 330,
"cds_start": 959,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.959T>G",
"hgvs_p": "p.Leu320Arg",
"transcript": "ENST00000636691.1",
"protein_id": "ENSP00000490725.1",
"transcript_support_level": 5,
"aa_start": 320,
"aa_end": null,
"aa_length": 330,
"cds_start": 959,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.959T>G",
"hgvs_p": "p.Leu320Arg",
"transcript": "ENST00000637922.1",
"protein_id": "ENSP00000490071.1",
"transcript_support_level": 5,
"aa_start": 320,
"aa_end": null,
"aa_length": 330,
"cds_start": 959,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.833T>G",
"hgvs_p": "p.Leu278Arg",
"transcript": "ENST00000636128.1",
"protein_id": "ENSP00000489789.1",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 288,
"cds_start": 833,
"cds_end": null,
"cds_length": 867,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.566T>G",
"hgvs_p": "p.Leu189Arg",
"transcript": "ENST00000635756.1",
"protein_id": "ENSP00000490322.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 199,
"cds_start": 566,
"cds_end": null,
"cds_length": 600,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1589,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.2840T>G",
"hgvs_p": null,
"transcript": "ENST00000518746.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 3870,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.*990T>G",
"hgvs_p": null,
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}