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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: 6-159779075-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=159779075&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 159779075,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030752.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1641T>A",
"hgvs_p": "p.Asp547Glu",
"transcript": "NM_030752.3",
"protein_id": "NP_110379.2",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 556,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": "ENST00000321394.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030752.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1641T>A",
"hgvs_p": "p.Asp547Glu",
"transcript": "ENST00000321394.12",
"protein_id": "ENSP00000317334.7",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 556,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": "NM_030752.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321394.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "NM_005891.3",
"protein_id": "NP_005882.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": "ENST00000367048.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005891.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000367048.5",
"protein_id": "ENSP00000356015.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": "NM_005891.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367048.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1626T>A",
"hgvs_p": "p.Asp542Glu",
"transcript": "ENST00000934596.1",
"protein_id": "ENSP00000604655.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 551,
"cds_start": 1626,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934596.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1608T>A",
"hgvs_p": "p.Asp536Glu",
"transcript": "ENST00000934597.1",
"protein_id": "ENSP00000604656.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 545,
"cds_start": 1608,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934597.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1341T>A",
"hgvs_p": "p.Asp447Glu",
"transcript": "ENST00000869775.1",
"protein_id": "ENSP00000539834.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 456,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869775.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1284T>A",
"hgvs_p": "p.Asp428Glu",
"transcript": "ENST00000869774.1",
"protein_id": "ENSP00000539833.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 437,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869774.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1221T>A",
"hgvs_p": "p.Asp407Glu",
"transcript": "ENST00000934598.1",
"protein_id": "ENSP00000604657.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 416,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934598.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1176T>A",
"hgvs_p": "p.Asp392Glu",
"transcript": "NM_001008897.2",
"protein_id": "NP_001008897.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 401,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008897.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1176T>A",
"hgvs_p": "p.Asp392Glu",
"transcript": "ENST00000392168.6",
"protein_id": "ENSP00000376008.2",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 401,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392168.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.969T>A",
"hgvs_p": "p.Asp323Glu",
"transcript": "ENST00000544255.5",
"protein_id": "ENSP00000439447.1",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 332,
"cds_start": 969,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544255.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.*175T>A",
"hgvs_p": null,
"transcript": "ENST00000420894.6",
"protein_id": "ENSP00000390159.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420894.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "NM_001303253.1",
"protein_id": "NP_001290182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000869581.1",
"protein_id": "ENSP00000539640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000869582.1",
"protein_id": "ENSP00000539641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869582.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000869584.1",
"protein_id": "ENSP00000539643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869584.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000869583.1",
"protein_id": "ENSP00000539642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": null,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000869587.1",
"protein_id": "ENSP00000539646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": null,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000934474.1",
"protein_id": "ENSP00000604533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000934470.1",
"protein_id": "ENSP00000604529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": null,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*246A>T",
"hgvs_p": null,
"transcript": "ENST00000869590.1",
"protein_id": "ENSP00000539649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
"score": 0,
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"pathogenic_score": 2,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"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
}