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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: 20-17969930-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17969930&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17969930,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001310338.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "NM_052865.4",
"protein_id": "NP_443097.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 344,
"cds_start": 71,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377710.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052865.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000377710.10",
"protein_id": "ENSP00000366939.5",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 344,
"cds_start": 71,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052865.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377710.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000948803.1",
"protein_id": "ENSP00000618862.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 367,
"cds_start": 71,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948803.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895985.1",
"protein_id": "ENSP00000566044.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 364,
"cds_start": 71,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895985.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000948799.1",
"protein_id": "ENSP00000618858.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 364,
"cds_start": 71,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948799.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "NM_001310338.2",
"protein_id": "NP_001297267.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 359,
"cds_start": 71,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001310338.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895978.1",
"protein_id": "ENSP00000566037.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 359,
"cds_start": 71,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895978.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895981.1",
"protein_id": "ENSP00000566040.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 359,
"cds_start": 71,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895981.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895982.1",
"protein_id": "ENSP00000566041.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 359,
"cds_start": 71,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895982.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000948798.1",
"protein_id": "ENSP00000618857.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 359,
"cds_start": 71,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948798.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895976.1",
"protein_id": "ENSP00000566035.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 344,
"cds_start": 71,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895976.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895977.1",
"protein_id": "ENSP00000566036.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 344,
"cds_start": 71,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895977.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895980.1",
"protein_id": "ENSP00000566039.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 344,
"cds_start": 71,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895980.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000925979.1",
"protein_id": "ENSP00000596038.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 344,
"cds_start": 71,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925979.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000925980.1",
"protein_id": "ENSP00000596039.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 344,
"cds_start": 71,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925980.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000948800.1",
"protein_id": "ENSP00000618859.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 344,
"cds_start": 71,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948800.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895979.1",
"protein_id": "ENSP00000566038.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 339,
"cds_start": 71,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895979.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000895986.1",
"protein_id": "ENSP00000566045.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 280,
"cds_start": 71,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895986.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000948801.1",
"protein_id": "ENSP00000618860.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 279,
"cds_start": 71,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948801.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000948802.1",
"protein_id": "ENSP00000618861.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 279,
"cds_start": 71,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948802.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "NM_001363738.2",
"protein_id": "NP_001350667.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 264,
"cds_start": 71,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363738.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000377709.1",
"protein_id": "ENSP00000366938.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 264,
"cds_start": 71,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377709.1"
},
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}
],
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}