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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: 17-18363661-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18363661&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18363661,
"ref": "G",
"alt": "C",
"effect": "upstream_gene_variant",
"transcript": "NM_004169.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "NM_004169.5",
"protein_id": "NP_004160.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316694.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004169.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "ENST00000316694.8",
"protein_id": "ENSP00000318868.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004169.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316694.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"transcript": "ENST00000583780.2",
"protein_id": "ENSP00000462041.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583780.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "ENST00000354098.7",
"protein_id": "ENSP00000318805.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": null,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354098.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "ENST00000926103.1",
"protein_id": "ENSP00000596162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": null,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"transcript": "ENST00000886395.1",
"protein_id": "ENSP00000556454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": null,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886395.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "ENST00000926101.1",
"protein_id": "ENSP00000596160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": null,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-444C>G",
"hgvs_p": null,
"transcript": "ENST00000886362.1",
"protein_id": "ENSP00000556421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886362.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-305C>G",
"hgvs_p": null,
"transcript": "ENST00000886363.1",
"protein_id": "ENSP00000556422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-428C>G",
"hgvs_p": null,
"transcript": "ENST00000886368.1",
"protein_id": "ENSP00000556427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-404C>G",
"hgvs_p": null,
"transcript": "ENST00000886375.1",
"protein_id": "ENSP00000556434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886375.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-332C>G",
"hgvs_p": null,
"transcript": "ENST00000886379.1",
"protein_id": "ENSP00000556438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886379.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-402C>G",
"hgvs_p": null,
"transcript": "ENST00000886381.1",
"protein_id": "ENSP00000556440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886381.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-471C>G",
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"transcript": "ENST00000886382.1",
"protein_id": "ENSP00000556441.1",
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"biotype": "protein_coding",
"feature": "ENST00000886382.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-452C>G",
"hgvs_p": null,
"transcript": "ENST00000886384.1",
"protein_id": "ENSP00000556443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886384.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"transcript": "ENST00000886397.1",
"protein_id": "ENSP00000556456.1",
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"biotype": "protein_coding",
"feature": "ENST00000886397.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"transcript": "ENST00000886371.1",
"protein_id": "ENSP00000556430.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886371.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "ENST00000926102.1",
"protein_id": "ENSP00000596161.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "SHMT1",
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"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "ENST00000886374.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "SHMT1",
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"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "ENST00000886385.1",
"protein_id": "ENSP00000556444.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "SHMT1",
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"hgvs_c": "c.-309C>G",
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"transcript": "ENST00000926099.1",
"protein_id": "ENSP00000596158.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000926099.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.-309C>G",
"hgvs_p": null,
"transcript": "ENST00000886396.1",
"protein_id": "ENSP00000556455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
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"cds_length": 1356,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886396.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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}
],
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}