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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: 7-100628298-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100628298&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100628298,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_003227.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1398delG",
"hgvs_p": "p.Arg468fs",
"transcript": "NM_003227.4",
"protein_id": "NP_003218.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 801,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223051.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003227.4"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1398delG",
"hgvs_p": "p.Arg468fs",
"transcript": "ENST00000223051.8",
"protein_id": "ENSP00000223051.3",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 801,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223051.8"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1494delG",
"hgvs_p": "p.Arg500fs",
"transcript": "ENST00000855275.1",
"protein_id": "ENSP00000525334.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 833,
"cds_start": 1494,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855275.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1398delG",
"hgvs_p": "p.Arg468fs",
"transcript": "ENST00000855257.1",
"protein_id": "ENSP00000525316.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 832,
"cds_start": 1398,
"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": "ENST00000855257.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1482delG",
"hgvs_p": "p.Arg496fs",
"transcript": "ENST00000855265.1",
"protein_id": "ENSP00000525324.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 829,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855265.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1455delG",
"hgvs_p": "p.Arg487fs",
"transcript": "ENST00000855221.1",
"protein_id": "ENSP00000525280.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 820,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855221.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1455delG",
"hgvs_p": "p.Arg487fs",
"transcript": "ENST00000855229.1",
"protein_id": "ENSP00000525288.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 820,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855229.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1455delG",
"hgvs_p": "p.Arg487fs",
"transcript": "ENST00000855234.1",
"protein_id": "ENSP00000525293.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 820,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855234.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1455delG",
"hgvs_p": "p.Arg487fs",
"transcript": "ENST00000855277.1",
"protein_id": "ENSP00000525336.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 820,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855277.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1455delG",
"hgvs_p": "p.Arg487fs",
"transcript": "ENST00000855238.1",
"protein_id": "ENSP00000525297.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 815,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855238.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1455delG",
"hgvs_p": "p.Arg487fs",
"transcript": "ENST00000855259.1",
"protein_id": "ENSP00000525318.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 815,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855259.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1440delG",
"hgvs_p": "p.Arg482fs",
"transcript": "ENST00000855263.1",
"protein_id": "ENSP00000525322.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 815,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855263.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1437delG",
"hgvs_p": "p.Arg481fs",
"transcript": "ENST00000855226.1",
"protein_id": "ENSP00000525285.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 814,
"cds_start": 1437,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855226.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1437delG",
"hgvs_p": "p.Arg481fs",
"transcript": "ENST00000855236.1",
"protein_id": "ENSP00000525295.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 814,
"cds_start": 1437,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855236.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1425delG",
"hgvs_p": "p.Arg477fs",
"transcript": "ENST00000855230.1",
"protein_id": "ENSP00000525289.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 810,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855230.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1425delG",
"hgvs_p": "p.Arg477fs",
"transcript": "ENST00000855252.1",
"protein_id": "ENSP00000525311.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 810,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855252.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1425delG",
"hgvs_p": "p.Arg477fs",
"transcript": "ENST00000855270.1",
"protein_id": "ENSP00000525329.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 810,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855270.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1398delG",
"hgvs_p": "p.Arg468fs",
"transcript": "ENST00000462107.1",
"protein_id": "ENSP00000420525.1",
"transcript_support_level": 5,
"aa_start": 466,
"aa_end": null,
"aa_length": 801,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462107.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1398delG",
"hgvs_p": "p.Arg468fs",
"transcript": "ENST00000855220.1",
"protein_id": "ENSP00000525279.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 801,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855220.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1395delG",
"hgvs_p": "p.Arg467fs",
"transcript": "ENST00000855262.1",
"protein_id": "ENSP00000525321.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 800,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855262.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1395delG",
"hgvs_p": "p.Arg467fs",
"transcript": "ENST00000855272.1",
"protein_id": "ENSP00000525331.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 800,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855272.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1455delG",
"hgvs_p": "p.Arg487fs",
"transcript": "ENST00000855273.1",
"protein_id": "ENSP00000525332.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 800,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855273.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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}
],
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}