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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: 5-140676715-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140676715&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140676715,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000504156.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Pro378Leu",
"transcript": "NM_002109.6",
"protein_id": "NP_002100.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 509,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": "ENST00000504156.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Pro378Leu",
"transcript": "ENST00000504156.7",
"protein_id": "ENSP00000425634.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 509,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": "NM_002109.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "ENST00000457527.6",
"protein_id": "ENSP00000387893.2",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 489,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Pro378Leu",
"transcript": "ENST00000507746.7",
"protein_id": "ENSP00000425889.2",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 512,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Pro378Leu",
"transcript": "ENST00000675204.1",
"protein_id": "ENSP00000501643.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 511,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "NM_001258041.3",
"protein_id": "NP_001244970.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 489,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1046C>T",
"hgvs_p": "p.Pro349Leu",
"transcript": "NM_001289094.2",
"protein_id": "NP_001276023.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 480,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Pro342Leu",
"transcript": "ENST00000676327.1",
"protein_id": "ENSP00000502594.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 473,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Pro378Leu",
"transcript": "ENST00000675366.1",
"protein_id": "ENSP00000501747.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 470,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Pro338Leu",
"transcript": "NM_001258040.3",
"protein_id": "NP_001244969.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 469,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Pro338Leu",
"transcript": "ENST00000438307.6",
"protein_id": "ENSP00000411511.2",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 469,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Pro318Leu",
"transcript": "NM_001258042.3",
"protein_id": "NP_001244971.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 449,
"cds_start": 953,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Pro318Leu",
"transcript": "ENST00000307633.7",
"protein_id": "ENSP00000304668.3",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 449,
"cds_start": 953,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.926C>T",
"hgvs_p": "p.Pro309Leu",
"transcript": "ENST00000675698.1",
"protein_id": "ENSP00000501581.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 440,
"cds_start": 926,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.911C>T",
"hgvs_p": "p.Pro304Leu",
"transcript": "NM_001289092.2",
"protein_id": "NP_001276021.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 435,
"cds_start": 911,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.911C>T",
"hgvs_p": "p.Pro304Leu",
"transcript": "ENST00000415192.6",
"protein_id": "ENSP00000411085.2",
"transcript_support_level": 2,
"aa_start": 304,
"aa_end": null,
"aa_length": 435,
"cds_start": 911,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000675851.1",
"protein_id": "ENSP00000502624.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 399,
"cds_start": 803,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Pro264Leu",
"transcript": "NM_001289093.2",
"protein_id": "NP_001276022.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 395,
"cds_start": 791,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Pro264Leu",
"transcript": "ENST00000431330.7",
"protein_id": "ENSP00000393244.2",
"transcript_support_level": 2,
"aa_start": 264,
"aa_end": null,
"aa_length": 395,
"cds_start": 791,
"cds_end": null,
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"cdna_start": 1024,
"cdna_end": null,
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"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "n.2746C>T",
"hgvs_p": null,
"transcript": "ENST00000504366.5",
"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": 3494,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "n.2358C>T",
"hgvs_p": null,
"transcript": "ENST00000506579.6",
"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": 5497,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "n.*1072C>T",
"hgvs_p": null,
"transcript": "ENST00000512396.6",
"protein_id": "ENSP00000421576.1",
"transcript_support_level": 5,
"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": 2052,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS1",
"gene_hgnc_id": 4816,
"hgvs_c": "n.*1188C>T",
"hgvs_p": null,
"transcript": "ENST00000643686.1",
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}
],
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}