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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: 17-19648999-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19648999&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19648999,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000176643.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "NM_000382.3",
"protein_id": "NP_000373.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 485,
"cds_start": 28,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "ENST00000176643.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000176643.11",
"protein_id": "ENSP00000176643.6",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 485,
"cds_start": 28,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "NM_000382.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000339618.8",
"protein_id": "ENSP00000345774.4",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 508,
"cds_start": 28,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000671878.1",
"protein_id": "ENSP00000500516.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 521,
"cds_start": 28,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000672465.1",
"protein_id": "ENSP00000500517.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 521,
"cds_start": 28,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "NM_001031806.2",
"protein_id": "NP_001026976.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 508,
"cds_start": 28,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "NM_001369136.1",
"protein_id": "NP_001356065.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 508,
"cds_start": 28,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "NM_001369137.2",
"protein_id": "NP_001356066.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 508,
"cds_start": 28,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "NM_001369138.2",
"protein_id": "NP_001356067.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 485,
"cds_start": 28,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "NM_001369139.1",
"protein_id": "NP_001356068.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 485,
"cds_start": 28,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000579855.5",
"protein_id": "ENSP00000463637.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 485,
"cds_start": 28,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000581518.6",
"protein_id": "ENSP00000461916.2",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 485,
"cds_start": 28,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000672357.1",
"protein_id": "ENSP00000500092.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 485,
"cds_start": 28,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "NM_001369146.2",
"protein_id": "NP_001356075.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 424,
"cds_start": 28,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000673136.1",
"protein_id": "ENSP00000500380.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 403,
"cds_start": 28,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000631291.2",
"protein_id": "ENSP00000486085.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 393,
"cds_start": 28,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000395575.7",
"protein_id": "ENSP00000378942.3",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 376,
"cds_start": 28,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000626500.2",
"protein_id": "ENSP00000486283.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 182,
"cds_start": 28,
"cds_end": null,
"cds_length": 549,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "ENST00000580550.5",
"protein_id": "ENSP00000462964.1",
"transcript_support_level": 4,
"aa_start": 10,
"aa_end": null,
"aa_length": 145,
"cds_start": 28,
"cds_end": null,
"cds_length": 439,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Gln10Glu",
"transcript": "XM_047435622.1",
"protein_id": "XP_047291578.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 424,
"cds_start": 28,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "n.38C>G",
"hgvs_p": null,
"transcript": "ENST00000446398.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "n.151C>G",
"hgvs_p": null,
"transcript": "ENST00000467473.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "n.28C>G",
"hgvs_p": null,
"transcript": "ENST00000472059.6",
"protein_id": "ENSP00000458397.1",
"transcript_support_level": 2,
"aa_start": null,
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],
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"computational_score_selected": 0.008210927248001099,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
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"BP6",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000176643.11",
"gene_symbol": "ALDH3A2",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "ALDH3A2-related disorder,Sjögren-Larsson syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:2",
"phenotype_combined": "not provided|Sjögren-Larsson syndrome|ALDH3A2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}