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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: 22-26541443-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26541443&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 26541443,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001362923.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "NM_003595.5",
"protein_id": "NP_003586.3",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338754.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003595.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000338754.9",
"protein_id": "ENSP00000339813.4",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003595.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338754.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Arg117His",
"transcript": "NM_001362923.2",
"protein_id": "NP_001349852.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 431,
"cds_start": 350,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362923.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910417.1",
"protein_id": "ENSP00000580476.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 383,
"cds_start": 188,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910417.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "NM_001008566.3",
"protein_id": "NP_001008566.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008566.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "NM_001362922.2",
"protein_id": "NP_001349851.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362922.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000398110.6",
"protein_id": "ENSP00000381180.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398110.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000403880.5",
"protein_id": "ENSP00000385192.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403880.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000454778.6",
"protein_id": "ENSP00000400357.2",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454778.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910410.1",
"protein_id": "ENSP00000580469.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910410.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910411.1",
"protein_id": "ENSP00000580470.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910411.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910412.1",
"protein_id": "ENSP00000580471.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910412.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910413.1",
"protein_id": "ENSP00000580472.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910413.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910414.1",
"protein_id": "ENSP00000580473.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910414.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910415.1",
"protein_id": "ENSP00000580474.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910415.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910416.1",
"protein_id": "ENSP00000580475.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910416.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910418.1",
"protein_id": "ENSP00000580477.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910418.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910419.1",
"protein_id": "ENSP00000580478.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910419.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910421.1",
"protein_id": "ENSP00000580480.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910421.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910422.1",
"protein_id": "ENSP00000580481.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910422.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910423.1",
"protein_id": "ENSP00000580482.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910423.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPST2",
"gene_hgnc_id": 12021,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63His",
"transcript": "ENST00000910424.1",
"protein_id": "ENSP00000580483.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 377,
"cds_start": 188,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910424.1"
},
{
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"phenotype_combined": "not specified",
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}
],
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}