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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: 11-3676221-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3676221&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3676221,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001365125.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5341A>C",
"hgvs_p": "p.Met1781Leu",
"transcript": "NM_016320.5",
"protein_id": "NP_057404.2",
"transcript_support_level": null,
"aa_start": 1781,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5341,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324932.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016320.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5341A>C",
"hgvs_p": "p.Met1781Leu",
"transcript": "ENST00000324932.12",
"protein_id": "ENSP00000316032.7",
"transcript_support_level": 1,
"aa_start": 1781,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5341,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016320.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324932.12"
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.2197A>C",
"hgvs_p": "p.Met733Leu",
"transcript": "ENST00000429801.5",
"protein_id": "ENSP00000413146.1",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 752,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429801.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5485A>C",
"hgvs_p": "p.Met1829Leu",
"transcript": "ENST00000915300.1",
"protein_id": "ENSP00000585359.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1848,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915300.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5434A>C",
"hgvs_p": "p.Met1812Leu",
"transcript": "NM_001365125.2",
"protein_id": "NP_001352054.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 1831,
"cds_start": 5434,
"cds_end": null,
"cds_length": 5496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365125.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5434A>C",
"hgvs_p": "p.Met1812Leu",
"transcript": "ENST00000915302.1",
"protein_id": "ENSP00000585361.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 1831,
"cds_start": 5434,
"cds_end": null,
"cds_length": 5496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915302.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5407A>C",
"hgvs_p": "p.Met1803Leu",
"transcript": "ENST00000915311.1",
"protein_id": "ENSP00000585370.1",
"transcript_support_level": null,
"aa_start": 1803,
"aa_end": null,
"aa_length": 1822,
"cds_start": 5407,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915311.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5392A>C",
"hgvs_p": "p.Met1798Leu",
"transcript": "NM_001365126.2",
"protein_id": "NP_001352055.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 1817,
"cds_start": 5392,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365126.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5392A>C",
"hgvs_p": "p.Met1798Leu",
"transcript": "ENST00000359171.8",
"protein_id": "ENSP00000352091.5",
"transcript_support_level": 5,
"aa_start": 1798,
"aa_end": null,
"aa_length": 1817,
"cds_start": 5392,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359171.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5392A>C",
"hgvs_p": "p.Met1798Leu",
"transcript": "ENST00000915310.1",
"protein_id": "ENSP00000585369.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 1817,
"cds_start": 5392,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915310.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5386A>C",
"hgvs_p": "p.Met1796Leu",
"transcript": "ENST00000943238.1",
"protein_id": "ENSP00000613297.1",
"transcript_support_level": null,
"aa_start": 1796,
"aa_end": null,
"aa_length": 1815,
"cds_start": 5386,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943238.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5365A>C",
"hgvs_p": "p.Met1789Leu",
"transcript": "ENST00000915303.1",
"protein_id": "ENSP00000585362.1",
"transcript_support_level": null,
"aa_start": 1789,
"aa_end": null,
"aa_length": 1808,
"cds_start": 5365,
"cds_end": null,
"cds_length": 5427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915303.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5341A>C",
"hgvs_p": "p.Met1781Leu",
"transcript": "ENST00000851290.1",
"protein_id": "ENSP00000521349.1",
"transcript_support_level": null,
"aa_start": 1781,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5341,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851290.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5341A>C",
"hgvs_p": "p.Met1781Leu",
"transcript": "ENST00000915312.1",
"protein_id": "ENSP00000585371.1",
"transcript_support_level": null,
"aa_start": 1781,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5341,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915312.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5341A>C",
"hgvs_p": "p.Met1781Leu",
"transcript": "ENST00000915314.1",
"protein_id": "ENSP00000585373.1",
"transcript_support_level": null,
"aa_start": 1781,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5341,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915314.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5317A>C",
"hgvs_p": "p.Met1773Leu",
"transcript": "NM_001365127.2",
"protein_id": "NP_001352056.1",
"transcript_support_level": null,
"aa_start": 1773,
"aa_end": null,
"aa_length": 1792,
"cds_start": 5317,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365127.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5317A>C",
"hgvs_p": "p.Met1773Leu",
"transcript": "ENST00000527104.6",
"protein_id": "ENSP00000436226.2",
"transcript_support_level": 3,
"aa_start": 1773,
"aa_end": null,
"aa_length": 1792,
"cds_start": 5317,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527104.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5314A>C",
"hgvs_p": "p.Met1772Leu",
"transcript": "ENST00000700597.1",
"protein_id": "ENSP00000515087.1",
"transcript_support_level": null,
"aa_start": 1772,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5314,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700597.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5293A>C",
"hgvs_p": "p.Met1765Leu",
"transcript": "ENST00000915306.1",
"protein_id": "ENSP00000585365.1",
"transcript_support_level": null,
"aa_start": 1765,
"aa_end": null,
"aa_length": 1784,
"cds_start": 5293,
"cds_end": null,
"cds_length": 5355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915306.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5290A>C",
"hgvs_p": "p.Met1764Leu",
"transcript": "NM_001365128.2",
"protein_id": "NP_001352057.1",
"transcript_support_level": null,
"aa_start": 1764,
"aa_end": null,
"aa_length": 1783,
"cds_start": 5290,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365128.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5290A>C",
"hgvs_p": "p.Met1764Leu",
"transcript": "ENST00000700598.1",
"protein_id": "ENSP00000515088.1",
"transcript_support_level": null,
"aa_start": 1764,
"aa_end": null,
"aa_length": 1783,
"cds_start": 5290,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700598.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.5251A>C",
"hgvs_p": "p.Met1751Leu",
"transcript": "ENST00000915305.1",
"protein_id": "ENSP00000585364.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 1770,
"cds_start": 5251,
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}
],
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}