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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: 17-19671818-T-TAACAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19671818&ref=T&alt=TAACAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19671818,
"ref": "T",
"alt": "TAACAA",
"effect": "frameshift_variant",
"transcript": "NM_001031806.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "NM_000382.3",
"protein_id": "NP_000373.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000176643.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000382.3"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000176643.11",
"protein_id": "ENSP00000176643.6",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000382.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000176643.11"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000339618.8",
"protein_id": "ENSP00000345774.4",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339618.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "n.1057_1061dupACAAA",
"hgvs_p": null,
"transcript": "ENST00000476965.5",
"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": "ENST00000476965.5"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000671878.1",
"protein_id": "ENSP00000500516.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 521,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671878.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000672465.1",
"protein_id": "ENSP00000500517.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 521,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672465.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "NM_001031806.2",
"protein_id": "NP_001026976.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031806.2"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "NM_001369136.1",
"protein_id": "NP_001356065.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369136.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "NM_001369137.2",
"protein_id": "NP_001356066.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369137.2"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "NM_001369138.2",
"protein_id": "NP_001356067.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369138.2"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "NM_001369139.1",
"protein_id": "NP_001356068.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369139.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000579855.5",
"protein_id": "ENSP00000463637.1",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579855.5"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000581518.6",
"protein_id": "ENSP00000461916.2",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581518.6"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000672357.1",
"protein_id": "ENSP00000500092.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672357.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000877756.1",
"protein_id": "ENSP00000547815.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877756.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000877757.1",
"protein_id": "ENSP00000547816.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877757.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs",
"transcript": "ENST00000948947.1",
"protein_id": "ENSP00000619006.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 485,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948947.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1274_1278dupACAAA",
"hgvs_p": "p.Leu427fs",
"transcript": "ENST00000877753.1",
"protein_id": "ENSP00000547812.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 474,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877753.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1274_1278dupACAAA",
"hgvs_p": "p.Leu427fs",
"transcript": "ENST00000932536.1",
"protein_id": "ENSP00000602595.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 474,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932536.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1160_1164dupACAAA",
"hgvs_p": "p.Leu389fs",
"transcript": "ENST00000672709.1",
"protein_id": "ENSP00000499877.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 459,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672709.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1178_1182dupACAAA",
"hgvs_p": "p.Leu395fs",
"transcript": "ENST00000877754.1",
"protein_id": "ENSP00000547813.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 442,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877754.1"
},
{
"aa_ref": "L",
"aa_alt": "TN?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.980_984dupACAAA",
"hgvs_p": "p.Leu329fs",
"transcript": "ENST00000395575.7",
"protein_id": "ENSP00000378942.3",
"transcript_support_level": 5,
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],
"gene_symbol": "ALDH3A2",
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"dbsnp": "rs387906257",
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"gnomad_exomes_af": 0.00000615651,
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"gnomad_exomes_homalt": 0,
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"splice_score_selected": null,
"splice_prediction_selected": null,
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"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 7.928,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
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"dbscsnv_ada_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001031806.2",
"gene_symbol": "ALDH3A2",
"hgnc_id": 403,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1307_1311dupACAAA",
"hgvs_p": "p.Leu438fs"
}
],
"clinvar_disease": "Sjögren-Larsson syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Sjögren-Larsson syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}