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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: 1-236744666-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236744666&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236744666,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001103.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "NM_001103.4",
"protein_id": "NP_001094.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 894,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": "ENST00000366578.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000366578.6",
"protein_id": "ENSP00000355537.4",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 894,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": "NM_001103.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366578.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000542672.7",
"protein_id": "ENSP00000443495.1",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 894,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542672.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1407G>T",
"hgvs_p": "p.Ala469Ala",
"transcript": "ENST00000879537.1",
"protein_id": "ENSP00000549596.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 931,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879537.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1407G>T",
"hgvs_p": "p.Ala469Ala",
"transcript": "ENST00000967370.1",
"protein_id": "ENSP00000637429.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 931,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967370.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Ala466Ala",
"transcript": "ENST00000967362.1",
"protein_id": "ENSP00000637421.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 928,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967362.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1386G>T",
"hgvs_p": "p.Ala462Ala",
"transcript": "ENST00000879533.1",
"protein_id": "ENSP00000549592.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 924,
"cds_start": 1386,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879533.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000967365.1",
"protein_id": "ENSP00000637424.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 909,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967365.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000879532.1",
"protein_id": "ENSP00000549591.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 907,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879532.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Ala443Ala",
"transcript": "ENST00000967363.1",
"protein_id": "ENSP00000637422.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 905,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967363.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1308G>T",
"hgvs_p": "p.Ala436Ala",
"transcript": "ENST00000967352.1",
"protein_id": "ENSP00000637411.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 898,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967352.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1299G>T",
"hgvs_p": "p.Ala433Ala",
"transcript": "ENST00000879534.1",
"protein_id": "ENSP00000549593.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 895,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879534.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "NM_001278343.2",
"protein_id": "NP_001265272.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 894,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278343.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000879538.1",
"protein_id": "ENSP00000549597.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 893,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879538.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1290G>T",
"hgvs_p": "p.Ala430Ala",
"transcript": "ENST00000967348.1",
"protein_id": "ENSP00000637407.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 892,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967348.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000967355.1",
"protein_id": "ENSP00000637414.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 892,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967355.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1281G>T",
"hgvs_p": "p.Ala427Ala",
"transcript": "ENST00000967354.1",
"protein_id": "ENSP00000637413.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 889,
"cds_start": 1281,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967354.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Ala426Ala",
"transcript": "ENST00000967356.1",
"protein_id": "ENSP00000637415.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 888,
"cds_start": 1278,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967356.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1275G>T",
"hgvs_p": "p.Ala425Ala",
"transcript": "ENST00000879535.1",
"protein_id": "ENSP00000549594.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 887,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879535.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1266G>T",
"hgvs_p": "p.Ala422Ala",
"transcript": "ENST00000967357.1",
"protein_id": "ENSP00000637416.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 884,
"cds_start": 1266,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967357.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000879536.1",
"protein_id": "ENSP00000549595.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 881,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879536.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000967360.1",
"protein_id": "ENSP00000637419.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 872,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2619,
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{
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],
"gene_symbol": "ACTN2",
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"frequency_reference_population": 6.840535e-7,
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"gnomad_exomes_af": 6.84053e-7,
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"gnomad_exomes_ac": 1,
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"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001103.4",
"gene_symbol": "ACTN2",
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"effects": [
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],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Ala432Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}