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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: 17-75273524-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75273524&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75273524,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021734.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "NM_001126121.2",
"protein_id": "NP_001119593.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000416858.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126121.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000416858.7",
"protein_id": "ENSP00000397818.2",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001126121.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416858.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000402418.7",
"protein_id": "ENSP00000385312.3",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402418.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "NM_001126122.2",
"protein_id": "NP_001119594.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126122.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "NM_021734.5",
"protein_id": "NP_068380.3",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021734.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000320362.7",
"protein_id": "ENSP00000319574.3",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320362.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000442286.6",
"protein_id": "ENSP00000402202.2",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442286.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000580994.5",
"protein_id": "ENSP00000463795.1",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580994.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895817.1",
"protein_id": "ENSP00000565876.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895817.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895818.1",
"protein_id": "ENSP00000565877.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895818.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895821.1",
"protein_id": "ENSP00000565880.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895821.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895822.1",
"protein_id": "ENSP00000565881.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895822.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895823.1",
"protein_id": "ENSP00000565882.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895823.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895825.1",
"protein_id": "ENSP00000565884.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895825.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895826.1",
"protein_id": "ENSP00000565885.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895826.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895827.1",
"protein_id": "ENSP00000565886.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895827.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895828.1",
"protein_id": "ENSP00000565887.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895828.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895829.1",
"protein_id": "ENSP00000565888.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895829.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000895830.1",
"protein_id": "ENSP00000565889.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895830.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000921220.1",
"protein_id": "ENSP00000591279.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921220.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000921225.1",
"protein_id": "ENSP00000591284.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921225.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Gly297Val",
"transcript": "ENST00000921226.1",
"protein_id": "ENSP00000591285.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 320,
"cds_start": 890,
"cds_end": null,
"cds_length": 963,
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021734.5",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 4,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}