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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: 17-15629127-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15629127&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15629127,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006470.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "NM_001348119.1",
"protein_id": "NP_001335048.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649191.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348119.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000649191.2",
"protein_id": "ENSP00000497185.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001348119.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649191.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251537",
"gene_hgnc_id": null,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000455584.2",
"protein_id": "ENSP00000402644.2",
"transcript_support_level": 2,
"aa_start": 395,
"aa_end": null,
"aa_length": 953,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455584.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000336708.11",
"protein_id": "ENSP00000338989.7",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336708.11"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.535G>T",
"hgvs_p": "p.Val179Phe",
"transcript": "ENST00000577886.5",
"protein_id": "ENSP00000462903.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 348,
"cds_start": 535,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577886.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "NM_001348120.1",
"protein_id": "NP_001335049.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348120.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "NM_006470.4",
"protein_id": "NP_006461.3",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006470.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000578237.5",
"protein_id": "ENSP00000463188.1",
"transcript_support_level": 5,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578237.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000852769.1",
"protein_id": "ENSP00000522828.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852769.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000932631.1",
"protein_id": "ENSP00000602690.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932631.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000932632.1",
"protein_id": "ENSP00000602691.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932632.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000932633.1",
"protein_id": "ENSP00000602692.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932633.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000932634.1",
"protein_id": "ENSP00000602693.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932634.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967546.1",
"protein_id": "ENSP00000637605.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967546.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967547.1",
"protein_id": "ENSP00000637606.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967547.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967548.1",
"protein_id": "ENSP00000637607.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967548.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967549.1",
"protein_id": "ENSP00000637608.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967549.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967550.1",
"protein_id": "ENSP00000637609.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967550.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967551.1",
"protein_id": "ENSP00000637610.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967551.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967552.1",
"protein_id": "ENSP00000637611.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967552.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967553.1",
"protein_id": "ENSP00000637612.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967553.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Phe",
"transcript": "ENST00000967554.1",
"protein_id": "ENSP00000637613.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}