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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: 3-195867034-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195867034&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 195867034,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001387707.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3034-18C>T",
"hgvs_p": null,
"transcript": "NM_001382273.1",
"protein_id": "NP_001369202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1055,
"cds_start": null,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000672887.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3034-18C>T",
"hgvs_p": null,
"transcript": "ENST00000672887.2",
"protein_id": "ENSP00000499899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1055,
"cds_start": null,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382273.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672887.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.2989-18C>T",
"hgvs_p": null,
"transcript": "ENST00000428187.7",
"protein_id": "ENSP00000392546.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1040,
"cds_start": null,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428187.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.2983-18C>T",
"hgvs_p": null,
"transcript": "ENST00000333602.14",
"protein_id": "ENSP00000329425.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1038,
"cds_start": null,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333602.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3130-18C>T",
"hgvs_p": null,
"transcript": "NM_001387707.1",
"protein_id": "NP_001374636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": null,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387707.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3127-18C>T",
"hgvs_p": null,
"transcript": "ENST00000381916.7",
"protein_id": "ENSP00000371341.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381916.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3106-18C>T",
"hgvs_p": null,
"transcript": "NM_001382272.1",
"protein_id": "NP_001369201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": null,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3103-18C>T",
"hgvs_p": null,
"transcript": "ENST00000863906.1",
"protein_id": "ENSP00000533965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": null,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3103-18C>T",
"hgvs_p": null,
"transcript": "ENST00000863912.1",
"protein_id": "ENSP00000533971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": null,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3085-18C>T",
"hgvs_p": null,
"transcript": "NM_001382271.1",
"protein_id": "NP_001369200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1072,
"cds_start": null,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382271.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3085-18C>T",
"hgvs_p": null,
"transcript": "ENST00000673038.1",
"protein_id": "ENSP00000500452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1072,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673038.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3085-18C>T",
"hgvs_p": null,
"transcript": "ENST00000678220.1",
"protein_id": "ENSP00000503221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1072,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678220.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3061-18C>T",
"hgvs_p": null,
"transcript": "NM_001387708.1",
"protein_id": "NP_001374637.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1064,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387708.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3034-18C>T",
"hgvs_p": null,
"transcript": "NM_001382274.1",
"protein_id": "NP_001369203.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382274.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3034-18C>T",
"hgvs_p": null,
"transcript": "NM_001382275.1",
"protein_id": "NP_001369204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382275.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3034-18C>T",
"hgvs_p": null,
"transcript": "ENST00000863904.1",
"protein_id": "ENSP00000533963.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863904.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3034-18C>T",
"hgvs_p": null,
"transcript": "ENST00000863911.1",
"protein_id": "ENSP00000533970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863911.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3010-18C>T",
"hgvs_p": null,
"transcript": "NM_001010938.2",
"protein_id": "NP_001010938.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010938.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.3010-18C>T",
"hgvs_p": null,
"transcript": "ENST00000671753.1",
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"feature": "ENST00000671753.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.2989-18C>T",
"hgvs_p": null,
"transcript": "NM_001308046.2",
"protein_id": "NP_001294975.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "NM_001308046.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.2989-18C>T",
"hgvs_p": null,
"transcript": "NM_001386164.1",
"protein_id": "NP_001373093.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1040,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"hgvs_c": "c.2989-18C>T",
"hgvs_p": null,
"transcript": "NM_001387709.1",
"protein_id": "NP_001374638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1040,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"biotype": "pseudogene",
"feature": "NR_170688.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
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"biotype": "pseudogene",
"feature": "NR_170689.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 15,
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"gene_symbol": "TNK2",
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"biotype": "pseudogene",
"feature": "NR_170690.1"
},
{
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"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"exon_count": 16,
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"gene_symbol": "TNK2",
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"biotype": "pseudogene",
"feature": "NR_170691.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "TNK2",
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"transcript": "NR_170692.1",
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"biotype": "pseudogene",
"feature": "NR_170692.1"
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],
"gene_symbol": "TNK2",
"gene_hgnc_id": 19297,
"dbsnp": "rs540139244",
"frequency_reference_population": 0.00006511216,
"hom_count_reference_population": 0,
"allele_count_reference_population": 105,
"gnomad_exomes_af": 0.0000691656,
"gnomad_genomes_af": 0.0000262574,
"gnomad_exomes_ac": 101,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.865,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001387707.1",
"gene_symbol": "TNK2",
"hgnc_id": 19297,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3130-18C>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}