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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: 3-195884973-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195884973&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 195884973,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000672887.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "NM_001382273.1",
"protein_id": "NP_001369202.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1055,
"cds_start": 295,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000672887.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "ENST00000672887.2",
"protein_id": "ENSP00000499899.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1055,
"cds_start": 295,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_001382273.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "ENST00000428187.7",
"protein_id": "ENSP00000392546.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 1040,
"cds_start": 391,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "ENST00000333602.14",
"protein_id": "ENSP00000329425.6",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 1038,
"cds_start": 295,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 1631,
"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": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "n.295C>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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "NM_001387707.1",
"protein_id": "NP_001374636.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1087,
"cds_start": 391,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Trp",
"transcript": "ENST00000381916.7",
"protein_id": "ENSP00000371341.2",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 1086,
"cds_start": 484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "NM_001382272.1",
"protein_id": "NP_001369201.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1079,
"cds_start": 367,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "NM_001382271.1",
"protein_id": "NP_001369200.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1072,
"cds_start": 391,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "ENST00000673038.1",
"protein_id": "ENSP00000500452.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1072,
"cds_start": 391,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "ENST00000678220.1",
"protein_id": "ENSP00000503221.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1072,
"cds_start": 391,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "NM_001387708.1",
"protein_id": "NP_001374637.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1064,
"cds_start": 367,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "NM_001382274.1",
"protein_id": "NP_001369203.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1055,
"cds_start": 295,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "NM_001382275.1",
"protein_id": "NP_001369204.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1055,
"cds_start": 391,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "NM_001010938.2",
"protein_id": "NP_001010938.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1047,
"cds_start": 367,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000671753.1",
"protein_id": "ENSP00000499858.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1047,
"cds_start": 367,
"cds_end": null,
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"cdna_start": 629,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "NM_001308046.2",
"protein_id": "NP_001294975.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1040,
"cds_start": 391,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "NM_001386164.1",
"protein_id": "NP_001373093.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1040,
"cds_start": 295,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "NM_001387709.1",
"protein_id": "NP_001374638.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1040,
"cds_start": 295,
"cds_end": null,
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"cdna_start": 444,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "NM_001387710.1",
"protein_id": "NP_001374639.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1040,
"cds_start": 295,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "NM_001387711.1",
"protein_id": "NP_001374640.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1040,
"cds_start": 295,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
"transcript": "NM_001387712.1",
"protein_id": "NP_001374641.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1040,
"cds_start": 295,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Trp",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}