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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: 7-100114074-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100114074&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100114074,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000453269.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "NM_139315.3",
"protein_id": "NP_647476.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": "ENST00000453269.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000453269.7",
"protein_id": "ENSP00000389575.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": "NM_139315.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000344095.8",
"protein_id": "ENSP00000344537.4",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000452041.5",
"protein_id": "ENSP00000416396.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000472509.6",
"protein_id": "ENSP00000419760.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Arg92Cys",
"transcript": "NM_001365004.1",
"protein_id": "NP_001351933.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 723,
"cds_start": 274,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Cys",
"transcript": "NM_001190415.2",
"protein_id": "NP_001177344.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 714,
"cds_start": 247,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Cys",
"transcript": "ENST00000437822.6",
"protein_id": "ENSP00000399982.2",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 714,
"cds_start": 247,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "NM_001364998.1",
"protein_id": "NP_001351927.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "NM_001364999.1",
"protein_id": "NP_001351928.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "NM_005641.4",
"protein_id": "NP_005632.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000460673.3",
"protein_id": "ENSP00000427710.3",
"transcript_support_level": 4,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000685280.1",
"protein_id": "ENSP00000510209.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000686580.1",
"protein_id": "ENSP00000510270.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
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"cds_length": 2034,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000686777.1",
"protein_id": "ENSP00000510166.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000687137.1",
"protein_id": "ENSP00000508432.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
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"cdna_start": 216,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000687410.1",
"protein_id": "ENSP00000509158.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000687447.1",
"protein_id": "ENSP00000510217.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000687969.1",
"protein_id": "ENSP00000508679.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
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"cdna_start": 773,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000688343.1",
"protein_id": "ENSP00000508691.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
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"cdna_start": 361,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000688498.1",
"protein_id": "ENSP00000510409.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
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"cdna_start": 325,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000688640.1",
"protein_id": "ENSP00000509783.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 677,
"cds_start": 136,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000689754.1",
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}