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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: 17-41758746-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41758746&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41758746,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002230.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "NM_002230.4",
"protein_id": "NP_002221.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "ENST00000393931.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002230.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000393931.8",
"protein_id": "ENSP00000377508.3",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "NM_002230.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393931.8"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000310706.9",
"protein_id": "ENSP00000311113.5",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310706.9"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "NM_001352773.2",
"protein_id": "NP_001339702.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352773.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "NM_001352774.2",
"protein_id": "NP_001339703.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352774.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "NM_001352775.2",
"protein_id": "NP_001339704.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352775.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "NM_001352776.2",
"protein_id": "NP_001339705.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352776.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "NM_001352777.2",
"protein_id": "NP_001339706.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352777.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "NM_021991.4",
"protein_id": "NP_068831.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021991.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000393930.5",
"protein_id": "ENSP00000377507.1",
"transcript_support_level": 5,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393930.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885261.1",
"protein_id": "ENSP00000555320.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885261.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885262.1",
"protein_id": "ENSP00000555321.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885262.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885263.1",
"protein_id": "ENSP00000555322.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
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"cdna_start": 1831,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885263.1"
},
{
"aa_ref": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885264.1",
"protein_id": "ENSP00000555323.1",
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"aa_start": 541,
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"cds_start": 1622,
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"cdna_start": 1784,
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"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885264.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885265.1",
"protein_id": "ENSP00000555324.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
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"cdna_start": 2005,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885265.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885266.1",
"protein_id": "ENSP00000555325.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
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"cds_start": 1622,
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"cdna_start": 1850,
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"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885266.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885268.1",
"protein_id": "ENSP00000555327.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
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"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885268.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885269.1",
"protein_id": "ENSP00000555328.1",
"transcript_support_level": null,
"aa_start": 541,
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"aa_length": 745,
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"cdna_start": 1990,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885269.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885270.1",
"protein_id": "ENSP00000555329.1",
"transcript_support_level": null,
"aa_start": 541,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885270.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885271.1",
"protein_id": "ENSP00000555330.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885271.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885272.1",
"protein_id": "ENSP00000555331.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 745,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885272.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.His541Pro",
"transcript": "ENST00000885273.1",
"protein_id": "ENSP00000555332.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
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"cds_start": 1622,
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}