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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: 5-126545018-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=126545018&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 126545018,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000409134.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1567A>T",
"hgvs_p": "p.Thr523Ser",
"transcript": "NM_001182.5",
"protein_id": "NP_001173.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 539,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": "ENST00000409134.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1567A>T",
"hgvs_p": "p.Thr523Ser",
"transcript": "ENST00000409134.8",
"protein_id": "ENSP00000387123.3",
"transcript_support_level": 1,
"aa_start": 523,
"aa_end": null,
"aa_length": 539,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": "NM_001182.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Thr538Ser",
"transcript": "ENST00000636879.1",
"protein_id": "ENSP00000490811.1",
"transcript_support_level": 5,
"aa_start": 538,
"aa_end": null,
"aa_length": 554,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1558A>T",
"hgvs_p": "p.Thr520Ser",
"transcript": "ENST00000637272.1",
"protein_id": "ENSP00000489686.1",
"transcript_support_level": 5,
"aa_start": 520,
"aa_end": null,
"aa_length": 536,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1483A>T",
"hgvs_p": "p.Thr495Ser",
"transcript": "NM_001201377.2",
"protein_id": "NP_001188306.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 511,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1447A>T",
"hgvs_p": "p.Thr483Ser",
"transcript": "ENST00000636743.1",
"protein_id": "ENSP00000489725.1",
"transcript_support_level": 5,
"aa_start": 483,
"aa_end": null,
"aa_length": 499,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1387A>T",
"hgvs_p": "p.Thr463Ser",
"transcript": "ENST00000637206.1",
"protein_id": "ENSP00000489895.1",
"transcript_support_level": 5,
"aa_start": 463,
"aa_end": null,
"aa_length": 479,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1375A>T",
"hgvs_p": "p.Thr459Ser",
"transcript": "NM_001202404.2",
"protein_id": "NP_001189333.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 475,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1375A>T",
"hgvs_p": "p.Thr459Ser",
"transcript": "ENST00000553117.5",
"protein_id": "ENSP00000448593.1",
"transcript_support_level": 2,
"aa_start": 459,
"aa_end": null,
"aa_length": 475,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1366A>T",
"hgvs_p": "p.Thr456Ser",
"transcript": "ENST00000636886.1",
"protein_id": "ENSP00000490371.1",
"transcript_support_level": 5,
"aa_start": 456,
"aa_end": null,
"aa_length": 472,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1476A>T",
"hgvs_p": null,
"transcript": "ENST00000458249.6",
"protein_id": "ENSP00000403929.1",
"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": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.314A>T",
"hgvs_p": null,
"transcript": "ENST00000485852.7",
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.1994A>T",
"hgvs_p": null,
"transcript": "ENST00000497231.7",
"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": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.1332A>T",
"hgvs_p": null,
"transcript": "ENST00000636286.1",
"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": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.1101A>T",
"hgvs_p": null,
"transcript": "ENST00000636482.1",
"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": 1337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1376A>T",
"hgvs_p": null,
"transcript": "ENST00000636808.1",
"protein_id": "ENSP00000490833.1",
"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": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1433A>T",
"hgvs_p": null,
"transcript": "ENST00000636872.1",
"protein_id": "ENSP00000490919.1",
"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": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*530A>T",
"hgvs_p": null,
"transcript": "ENST00000637292.1",
"protein_id": "ENSP00000490655.1",
"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": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1411A>T",
"hgvs_p": null,
"transcript": "ENST00000638008.1",
"protein_id": "ENSP00000490400.1",
"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": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.1513A>T",
"hgvs_p": null,
"transcript": "ENST00000638010.1",
"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": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1476A>T",
"hgvs_p": null,
"transcript": "ENST00000458249.6",
"protein_id": "ENSP00000403929.1",
"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": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1376A>T",
"hgvs_p": null,
"transcript": "ENST00000636808.1",
"protein_id": "ENSP00000490833.1",
"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": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP2",
"PP3_Moderate"
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"verdict": "Likely_pathogenic",
"transcript": "ENST00000409134.8",
"gene_symbol": "ALDH7A1",
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"effects": [
"missense_variant",
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"inheritance_mode": "AR,AD",
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"hgvs_p": "p.Thr523Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}