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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: 3-195868534-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195868534&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 195868534,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000672887.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Phe588Phe",
"transcript": "NM_001382273.1",
"protein_id": "NP_001369202.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1764,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000672887.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Phe588Phe",
"transcript": "ENST00000672887.2",
"protein_id": "ENSP00000499899.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1764,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_001382273.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1815C>T",
"hgvs_p": "p.Phe605Phe",
"transcript": "ENST00000428187.7",
"protein_id": "ENSP00000392546.1",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1815,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Phe573Phe",
"transcript": "ENST00000333602.14",
"protein_id": "ENSP00000329425.6",
"transcript_support_level": 1,
"aa_start": 573,
"aa_end": null,
"aa_length": 1038,
"cds_start": 1719,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3055,
"cdna_end": null,
"cdna_length": 5270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "n.*376C>T",
"hgvs_p": null,
"transcript": "ENST00000439230.6",
"protein_id": "ENSP00000395588.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "n.*376C>T",
"hgvs_p": null,
"transcript": "ENST00000439230.6",
"protein_id": "ENSP00000395588.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Phe620Phe",
"transcript": "NM_001387707.1",
"protein_id": "NP_001374636.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1860,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1953C>T",
"hgvs_p": "p.Phe651Phe",
"transcript": "ENST00000381916.7",
"protein_id": "ENSP00000371341.2",
"transcript_support_level": 2,
"aa_start": 651,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1953,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Phe612Phe",
"transcript": "NM_001382272.1",
"protein_id": "NP_001369201.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 1079,
"cds_start": 1836,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1815C>T",
"hgvs_p": "p.Phe605Phe",
"transcript": "NM_001382271.1",
"protein_id": "NP_001369200.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 1072,
"cds_start": 1815,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1815C>T",
"hgvs_p": "p.Phe605Phe",
"transcript": "ENST00000673038.1",
"protein_id": "ENSP00000500452.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 1072,
"cds_start": 1815,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1815C>T",
"hgvs_p": "p.Phe605Phe",
"transcript": "ENST00000678220.1",
"protein_id": "ENSP00000503221.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 1072,
"cds_start": 1815,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Phe597Phe",
"transcript": "NM_001387708.1",
"protein_id": "NP_001374637.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1064,
"cds_start": 1791,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Phe588Phe",
"transcript": "NM_001382274.1",
"protein_id": "NP_001369203.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1764,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Phe620Phe",
"transcript": "NM_001382275.1",
"protein_id": "NP_001369204.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1860,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Phe612Phe",
"transcript": "NM_001010938.2",
"protein_id": "NP_001010938.2",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1836,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Phe612Phe",
"transcript": "ENST00000671753.1",
"protein_id": "ENSP00000499858.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1836,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1815C>T",
"hgvs_p": "p.Phe605Phe",
"transcript": "NM_001308046.2",
"protein_id": "NP_001294975.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1815,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Phe573Phe",
"transcript": "NM_001386164.1",
"protein_id": "NP_001373093.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1719,
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"cds_length": 3123,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Phe573Phe",
"transcript": "NM_001387709.1",
"protein_id": "NP_001374638.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1719,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Phe573Phe",
"transcript": "NM_001387710.1",
"protein_id": "NP_001374639.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1719,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Phe573Phe",
"transcript": "NM_001387711.1",
"protein_id": "NP_001374640.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1719,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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,
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"hgvs_p": null,
"transcript": "ENST00000673374.1",
"protein_id": "ENSP00000500225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.*54C>T",
"hgvs_p": null,
"transcript": "ENST00000671767.1",
"protein_id": "ENSP00000499862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"dbsnp": "rs1056726",
"frequency_reference_population": 0.060936082,
"hom_count_reference_population": 3206,
"allele_count_reference_population": 95320,
"gnomad_exomes_af": 0.0609594,
"gnomad_genomes_af": 0.0607195,
"gnomad_exomes_ac": 86078,
"gnomad_genomes_ac": 9242,
"gnomad_exomes_homalt": 2874,
"gnomad_genomes_homalt": 332,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3700000047683716,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.37,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.821,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000672887.2",
"gene_symbol": "TNK2",
"hgnc_id": 19297,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Phe588Phe"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}