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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: 14-81270867-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=81270867&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 81270867,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001366849.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "NM_001394390.1",
"protein_id": "NP_001381319.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 955,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000614646.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394390.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "ENST00000614646.5",
"protein_id": "ENSP00000477736.2",
"transcript_support_level": 5,
"aa_start": 863,
"aa_end": null,
"aa_length": 955,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394390.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614646.5"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "ENST00000555447.5",
"protein_id": "ENSP00000450857.1",
"transcript_support_level": 1,
"aa_start": 806,
"aa_end": null,
"aa_length": 920,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555447.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "n.1924G>T",
"hgvs_p": null,
"transcript": "ENST00000555284.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000555284.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "NM_001366849.2",
"protein_id": "NP_001353778.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 977,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366849.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "ENST00000649389.1",
"protein_id": "ENSP00000498075.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 977,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649389.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "ENST00000553821.3",
"protein_id": "ENSP00000450577.3",
"transcript_support_level": 3,
"aa_start": 863,
"aa_end": null,
"aa_length": 955,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553821.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "NM_001256430.3",
"protein_id": "NP_001243359.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 920,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256430.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "NM_001366850.2",
"protein_id": "NP_001353779.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 898,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366850.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "ENST00000864005.1",
"protein_id": "ENSP00000534064.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 898,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864005.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "ENST00000864006.1",
"protein_id": "ENSP00000534065.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 898,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864006.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "XM_011537240.3",
"protein_id": "XP_011535542.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 977,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537240.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "XM_024449734.2",
"protein_id": "XP_024305502.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 977,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449734.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "XM_024449735.2",
"protein_id": "XP_024305503.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 977,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449735.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "XM_047431811.1",
"protein_id": "XP_047287767.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 977,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431811.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "XM_011537242.3",
"protein_id": "XP_011535544.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 955,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537242.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "XM_047431812.1",
"protein_id": "XP_047287768.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 955,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431812.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys",
"transcript": "XM_047431813.1",
"protein_id": "XP_047287769.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 955,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431813.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "XM_024449736.2",
"protein_id": "XP_024305504.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 920,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449736.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "XM_047431815.1",
"protein_id": "XP_047287771.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 920,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431815.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "XM_047431816.1",
"protein_id": "XP_047287772.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 898,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431816.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "c.2416G>T",
"hgvs_p": "p.Gly806Cys",
"transcript": "XM_047431817.1",
"protein_id": "XP_047287773.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 898,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"hgvs_c": "n.2617G>T",
"hgvs_p": null,
"transcript": "ENST00000652748.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000652748.1"
}
],
"gene_symbol": "STON2",
"gene_hgnc_id": 30652,
"dbsnp": "rs200826224",
"frequency_reference_population": 0.00014142955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 228,
"gnomad_exomes_af": 0.000127386,
"gnomad_genomes_af": 0.000276345,
"gnomad_exomes_ac": 186,
"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1277887523174286,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.3726,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.507,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001366849.2",
"gene_symbol": "STON2",
"hgnc_id": 30652,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2587G>T",
"hgvs_p": "p.Gly863Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}