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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: 20-63414180-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63414180&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63414180,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000359125.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1539C>T",
"hgvs_p": "p.Pro513Pro",
"transcript": "NM_172107.4",
"protein_id": "NP_742105.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 872,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": "ENST00000359125.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1539C>T",
"hgvs_p": "p.Pro513Pro",
"transcript": "ENST00000359125.7",
"protein_id": "ENSP00000352035.2",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 872,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": "NM_172107.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Pro495Pro",
"transcript": "ENST00000626839.2",
"protein_id": "ENSP00000486706.1",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 854,
"cds_start": 1485,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1446C>T",
"hgvs_p": "p.Pro482Pro",
"transcript": "ENST00000344462.8",
"protein_id": "ENSP00000339611.4",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 841,
"cds_start": 1446,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Pro495Pro",
"transcript": "NM_001382235.1",
"protein_id": "NP_001369164.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 890,
"cds_start": 1485,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Pro495Pro",
"transcript": "ENST00000706989.1",
"protein_id": "ENSP00000516702.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 890,
"cds_start": 1485,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Pro495Pro",
"transcript": "NM_172106.3",
"protein_id": "NP_742104.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 854,
"cds_start": 1485,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 9193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Pro494Pro",
"transcript": "NM_001439003.1",
"protein_id": "NP_001425932.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 853,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 9190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1455C>T",
"hgvs_p": "p.Pro485Pro",
"transcript": "NM_004518.6",
"protein_id": "NP_004509.2",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 844,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1455C>T",
"hgvs_p": "p.Pro485Pro",
"transcript": "ENST00000360480.7",
"protein_id": "ENSP00000353668.3",
"transcript_support_level": 5,
"aa_start": 485,
"aa_end": null,
"aa_length": 844,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Pro484Pro",
"transcript": "NM_001439004.1",
"protein_id": "NP_001425933.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 843,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Pro484Pro",
"transcript": "ENST00000627221.3",
"protein_id": "ENSP00000487469.2",
"transcript_support_level": 5,
"aa_start": 484,
"aa_end": null,
"aa_length": 843,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1446C>T",
"hgvs_p": "p.Pro482Pro",
"transcript": "NM_172108.5",
"protein_id": "NP_742106.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 841,
"cds_start": 1446,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 9154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1419C>T",
"hgvs_p": "p.Pro473Pro",
"transcript": "ENST00000713605.1",
"protein_id": "ENSP00000518901.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 832,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1455C>T",
"hgvs_p": "p.Pro485Pro",
"transcript": "ENST00000370224.5",
"protein_id": "ENSP00000359244.2",
"transcript_support_level": 5,
"aa_start": 485,
"aa_end": null,
"aa_length": 766,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1419C>T",
"hgvs_p": "p.Pro473Pro",
"transcript": "ENST00000625514.2",
"protein_id": "ENSP00000486040.1",
"transcript_support_level": 5,
"aa_start": 473,
"aa_end": null,
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"cds_start": 1419,
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"cdna_start": 1511,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1455C>T",
"hgvs_p": "p.Pro485Pro",
"transcript": "ENST00000629241.2",
"protein_id": "ENSP00000487142.1",
"transcript_support_level": 5,
"aa_start": 485,
"aa_end": null,
"aa_length": 730,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Pro369Pro",
"transcript": "ENST00000357249.6",
"protein_id": "ENSP00000349789.3",
"transcript_support_level": 5,
"aa_start": 369,
"aa_end": null,
"aa_length": 728,
"cds_start": 1107,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Pro312Pro",
"transcript": "ENST00000637193.1",
"protein_id": "ENSP00000490734.1",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 671,
"cds_start": 936,
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"cdna_start": 1338,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1455C>T",
"hgvs_p": "p.Pro485Pro",
"transcript": "ENST00000629676.2",
"protein_id": "ENSP00000486194.1",
"transcript_support_level": 5,
"aa_start": 485,
"aa_end": null,
"aa_length": 645,
"cds_start": 1455,
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"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Pro312Pro",
"transcript": "ENST00000629318.2",
"protein_id": "ENSP00000487384.2",
"transcript_support_level": 4,
"aa_start": 312,
"aa_end": null,
"aa_length": 442,
"cds_start": 936,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Pro494Pro",
"transcript": "XM_017027841.3",
"protein_id": "XP_016883330.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 889,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
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"hgvs_c": "c.1455C>T",
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}
],
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"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -7.335,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -21,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000359125.7",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Developmental and epileptic encephalopathy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided|Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}