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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: 20-63406734-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63406734&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63406734,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001382235.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2529C>T",
"hgvs_p": "p.Ser843Ser",
"transcript": "NM_172107.4",
"protein_id": "NP_742105.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 872,
"cds_start": 2529,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359125.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172107.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2529C>T",
"hgvs_p": "p.Ser843Ser",
"transcript": "ENST00000359125.7",
"protein_id": "ENSP00000352035.2",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 872,
"cds_start": 2529,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172107.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359125.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2475C>T",
"hgvs_p": "p.Ser825Ser",
"transcript": "ENST00000626839.2",
"protein_id": "ENSP00000486706.1",
"transcript_support_level": 1,
"aa_start": 825,
"aa_end": null,
"aa_length": 854,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626839.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Ser812Ser",
"transcript": "ENST00000344462.8",
"protein_id": "ENSP00000339611.4",
"transcript_support_level": 1,
"aa_start": 812,
"aa_end": null,
"aa_length": 841,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344462.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2583C>T",
"hgvs_p": "p.Ser861Ser",
"transcript": "NM_001382235.1",
"protein_id": "NP_001369164.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 890,
"cds_start": 2583,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382235.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2583C>T",
"hgvs_p": "p.Ser861Ser",
"transcript": "ENST00000706989.1",
"protein_id": "ENSP00000516702.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 890,
"cds_start": 2583,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706989.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2487C>T",
"hgvs_p": "p.Ser829Ser",
"transcript": "ENST00000852160.1",
"protein_id": "ENSP00000522219.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 858,
"cds_start": 2487,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852160.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2487C>T",
"hgvs_p": "p.Ser829Ser",
"transcript": "ENST00000921679.1",
"protein_id": "ENSP00000591738.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 858,
"cds_start": 2487,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921679.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2475C>T",
"hgvs_p": "p.Ser825Ser",
"transcript": "NM_172106.3",
"protein_id": "NP_742104.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 854,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172106.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2472C>T",
"hgvs_p": "p.Ser824Ser",
"transcript": "NM_001439003.1",
"protein_id": "NP_001425932.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 853,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439003.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2472C>T",
"hgvs_p": "p.Ser824Ser",
"transcript": "ENST00000852159.1",
"protein_id": "ENSP00000522218.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 853,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852159.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2445C>T",
"hgvs_p": "p.Ser815Ser",
"transcript": "NM_004518.6",
"protein_id": "NP_004509.2",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 844,
"cds_start": 2445,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004518.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2445C>T",
"hgvs_p": "p.Ser815Ser",
"transcript": "ENST00000360480.7",
"protein_id": "ENSP00000353668.3",
"transcript_support_level": 5,
"aa_start": 815,
"aa_end": null,
"aa_length": 844,
"cds_start": 2445,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360480.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2442C>T",
"hgvs_p": "p.Ser814Ser",
"transcript": "NM_001439004.1",
"protein_id": "NP_001425933.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 843,
"cds_start": 2442,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439004.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2442C>T",
"hgvs_p": "p.Ser814Ser",
"transcript": "ENST00000627221.3",
"protein_id": "ENSP00000487469.2",
"transcript_support_level": 5,
"aa_start": 814,
"aa_end": null,
"aa_length": 843,
"cds_start": 2442,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627221.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Ser812Ser",
"transcript": "NM_172108.5",
"protein_id": "NP_742106.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 841,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172108.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2409C>T",
"hgvs_p": "p.Ser803Ser",
"transcript": "ENST00000713605.1",
"protein_id": "ENSP00000518901.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 832,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713605.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2319C>T",
"hgvs_p": "p.Ser773Ser",
"transcript": "ENST00000921680.1",
"protein_id": "ENSP00000591739.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 802,
"cds_start": 2319,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921680.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ser699Ser",
"transcript": "ENST00000357249.6",
"protein_id": "ENSP00000349789.3",
"transcript_support_level": 5,
"aa_start": 699,
"aa_end": null,
"aa_length": 728,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357249.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.Ser642Ser",
"transcript": "ENST00000637193.1",
"protein_id": "ENSP00000490734.1",
"transcript_support_level": 5,
"aa_start": 642,
"aa_end": null,
"aa_length": 671,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637193.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1521C>T",
"hgvs_p": "p.Ser507Ser",
"transcript": "ENST00000921678.1",
"protein_id": "ENSP00000591737.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 536,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921678.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2580C>T",
"hgvs_p": "p.Ser860Ser",
"transcript": "XM_017027841.3",
"protein_id": "XP_016883330.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 889,
"cds_start": 2580,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
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],
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"computational_score_selected": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.473,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001382235.1",
"gene_symbol": "KCNQ2",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.2583C>T",
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}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "Developmental and epileptic encephalopathy|not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}