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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: 17-47699334-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47699334&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47699334,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014726.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "NM_001394755.1",
"protein_id": "NP_001381684.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": "ENST00000578982.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394755.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "ENST00000578982.6",
"protein_id": "ENSP00000462339.2",
"transcript_support_level": 3,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": "NM_001394755.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578982.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "ENST00000361722.7",
"protein_id": "ENSP00000354777.3",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361722.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "NM_001394756.1",
"protein_id": "NP_001381685.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394756.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "NM_014726.2",
"protein_id": "NP_055541.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014726.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "ENST00000851181.1",
"protein_id": "ENSP00000521240.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851181.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "ENST00000851183.1",
"protein_id": "ENSP00000521242.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851183.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "ENST00000851185.1",
"protein_id": "ENSP00000521244.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851185.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "ENST00000938875.1",
"protein_id": "ENSP00000608934.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938875.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.646T>C",
"hgvs_p": "p.Ser216Pro",
"transcript": "ENST00000851180.1",
"protein_id": "ENSP00000521239.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 614,
"cds_start": 646,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851180.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.646T>C",
"hgvs_p": "p.Ser216Pro",
"transcript": "ENST00000938873.1",
"protein_id": "ENSP00000608932.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 614,
"cds_start": 646,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938873.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Ser215Pro",
"transcript": "ENST00000851182.1",
"protein_id": "ENSP00000521241.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 613,
"cds_start": 643,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851182.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Ser215Pro",
"transcript": "ENST00000851184.1",
"protein_id": "ENSP00000521243.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 613,
"cds_start": 643,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851184.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.586T>C",
"hgvs_p": "p.Ser196Pro",
"transcript": "ENST00000938876.1",
"protein_id": "ENSP00000608935.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 594,
"cds_start": 586,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938876.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Ser181Pro",
"transcript": "ENST00000938874.1",
"protein_id": "ENSP00000608933.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 579,
"cds_start": 541,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938874.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "XM_005257860.5",
"protein_id": "XP_005257917.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257860.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "XM_005257861.5",
"protein_id": "XP_005257918.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 615,
"cds_start": 649,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257861.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.646T>C",
"hgvs_p": "p.Ser216Pro",
"transcript": "XM_047437153.1",
"protein_id": "XP_047293109.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 614,
"cds_start": 646,
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"cdna_start": 714,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437153.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.646T>C",
"hgvs_p": "p.Ser216Pro",
"transcript": "XM_047437154.1",
"protein_id": "XP_047293110.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 614,
"cds_start": 646,
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"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437154.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.646T>C",
"hgvs_p": "p.Ser216Pro",
"transcript": "XM_047437155.1",
"protein_id": "XP_047293111.1",
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"aa_start": 216,
"aa_end": null,
"aa_length": 614,
"cds_start": 646,
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"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437155.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.646T>C",
"hgvs_p": "p.Ser216Pro",
"transcript": "XM_047437156.1",
"protein_id": "XP_047293112.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 614,
"cds_start": 646,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437156.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Ser215Pro",
"transcript": "XM_017025432.2",
"protein_id": "XP_016880921.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 613,
"cds_start": 643,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025432.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "XM_047437157.1",
"protein_id": "XP_047293113.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 493,
"cds_start": 649,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437157.1"
}
],
"gene_symbol": "TBKBP1",
"gene_hgnc_id": 30140,
"dbsnp": "rs1047706820",
"frequency_reference_population": 0.000036685276,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000378297,
"gnomad_genomes_af": 0.0000263303,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02694118022918701,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0471,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.605,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014726.2",
"gene_symbol": "TBKBP1",
"hgnc_id": 30140,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}