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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: X-54810014-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=54810014&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 54810014,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014599.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "NM_177433.3",
"protein_id": "NP_803182.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 606,
"cds_start": 338,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375068.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177433.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000375068.6",
"protein_id": "ENSP00000364209.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 606,
"cds_start": 338,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177433.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375068.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000375053.6",
"protein_id": "ENSP00000364193.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 606,
"cds_start": 338,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375053.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000375058.5",
"protein_id": "ENSP00000364198.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 606,
"cds_start": 338,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375058.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000919666.1",
"protein_id": "ENSP00000589725.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 641,
"cds_start": 338,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919666.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000872302.1",
"protein_id": "ENSP00000542361.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 640,
"cds_start": 338,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872302.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000944666.1",
"protein_id": "ENSP00000614725.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 640,
"cds_start": 338,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944666.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000872307.1",
"protein_id": "ENSP00000542366.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 634,
"cds_start": 338,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872307.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000919654.1",
"protein_id": "ENSP00000589713.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 634,
"cds_start": 338,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919654.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000919667.1",
"protein_id": "ENSP00000589726.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 634,
"cds_start": 338,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919667.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000919661.1",
"protein_id": "ENSP00000589720.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 630,
"cds_start": 338,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919661.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000944667.1",
"protein_id": "ENSP00000614726.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 630,
"cds_start": 338,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944667.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000872297.1",
"protein_id": "ENSP00000542356.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 621,
"cds_start": 338,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872297.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000872308.1",
"protein_id": "ENSP00000542367.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 621,
"cds_start": 338,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872308.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000872311.1",
"protein_id": "ENSP00000542370.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 621,
"cds_start": 338,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872311.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000919668.1",
"protein_id": "ENSP00000589727.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 621,
"cds_start": 338,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919668.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000944664.1",
"protein_id": "ENSP00000614723.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 621,
"cds_start": 338,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944664.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000919658.1",
"protein_id": "ENSP00000589717.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 614,
"cds_start": 338,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919658.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "NM_014599.6",
"protein_id": "NP_055414.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 606,
"cds_start": 338,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014599.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "NM_201222.3",
"protein_id": "NP_957516.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 606,
"cds_start": 338,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201222.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000218439.8",
"protein_id": "ENSP00000218439.4",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 606,
"cds_start": 338,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218439.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000396224.1",
"protein_id": "ENSP00000379526.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 606,
"cds_start": 338,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396224.1"
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"phenotype_combined": "not provided",
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}
],
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}