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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: 19-10357771-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10357771&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10357771,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000525621.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "NM_003331.5",
"protein_id": "NP_003322.3",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "ENST00000525621.6",
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "ENST00000525621.6",
"protein_id": "ENSP00000431885.1",
"transcript_support_level": 1,
"aa_start": 820,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "NM_003331.5",
"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": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Pro635Leu",
"transcript": "ENST00000524462.5",
"protein_id": "ENSP00000433203.1",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 3456,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "NM_001385204.1",
"protein_id": "NP_001372133.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 4453,
"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": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "NM_001385203.1",
"protein_id": "NP_001372132.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 4324,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "NM_001406461.1",
"protein_id": "NP_001393390.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 4153,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "ENST00000531836.7",
"protein_id": "ENSP00000436175.2",
"transcript_support_level": 4,
"aa_start": 820,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 4158,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "NM_001385200.1",
"protein_id": "NP_001372129.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 4240,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Pro814Leu",
"transcript": "NM_001385207.1",
"protein_id": "NP_001372136.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2441,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 4225,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "ENST00000699360.1",
"protein_id": "ENSP00000514331.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 4201,
"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": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2375C>T",
"hgvs_p": "p.Pro792Leu",
"transcript": "NM_001385202.1",
"protein_id": "NP_001372131.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2375,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2753,
"cdna_end": null,
"cdna_length": 4159,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2369C>T",
"hgvs_p": "p.Pro790Leu",
"transcript": "NM_001385205.1",
"protein_id": "NP_001372134.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2369,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 4153,
"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": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "NM_001385197.1",
"protein_id": "NP_001372126.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 4132,
"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": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "ENST00000525976.6",
"protein_id": "ENSP00000434831.2",
"transcript_support_level": 3,
"aa_start": 820,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 4168,
"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": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Pro778Leu",
"transcript": "NM_001385206.1",
"protein_id": "NP_001372135.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 2711,
"cdna_end": null,
"cdna_length": 4117,
"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": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "NM_001385198.1",
"protein_id": "NP_001372127.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2459,
"cds_end": null,
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"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 4093,
"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": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2273C>T",
"hgvs_p": "p.Pro758Leu",
"transcript": "NM_001385199.1",
"protein_id": "NP_001372128.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 3967,
"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": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2261C>T",
"hgvs_p": "p.Pro754Leu",
"transcript": "NM_001385201.1",
"protein_id": "NP_001372130.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2261,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 2639,
"cdna_end": null,
"cdna_length": 4045,
"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": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "XM_047439304.1",
"protein_id": "XP_047295260.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2459,
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"cdna_start": 2837,
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"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": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Pro721Leu",
"transcript": "XM_011528246.4",
"protein_id": "XP_011526548.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2162,
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"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 3987,
"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": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Pro721Leu",
"transcript": "XM_011528247.2",
"protein_id": "XP_011526549.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3694,
"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": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Pro820Leu",
"transcript": "XM_047439305.1",
"protein_id": "XP_047295261.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 3685,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
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