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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: 14-88872452-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88872452&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 88872452,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001288781.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1347G>C",
"hgvs_p": "p.Gln449His",
"transcript": "NM_144596.4",
"protein_id": "NP_653197.2",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 515,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380656.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144596.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1347G>C",
"hgvs_p": "p.Gln449His",
"transcript": "ENST00000380656.7",
"protein_id": "ENSP00000370031.2",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 515,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144596.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380656.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1395G>C",
"hgvs_p": "p.Gln465His",
"transcript": "ENST00000338104.10",
"protein_id": "ENSP00000337653.6",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 531,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338104.10"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1317G>C",
"hgvs_p": "p.Gln439His",
"transcript": "ENST00000622513.4",
"protein_id": "ENSP00000482721.1",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 505,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622513.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1227G>C",
"hgvs_p": "p.Gln409His",
"transcript": "ENST00000346301.8",
"protein_id": "ENSP00000298324.6",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 475,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346301.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.552G>C",
"hgvs_p": "p.Gln184His",
"transcript": "ENST00000354441.10",
"protein_id": "ENSP00000346427.6",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 250,
"cds_start": 552,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354441.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "n.*754G>C",
"hgvs_p": null,
"transcript": "ENST00000555057.5",
"protein_id": "ENSP00000450951.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555057.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "n.*754G>C",
"hgvs_p": null,
"transcript": "ENST00000555057.5",
"protein_id": "ENSP00000450951.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555057.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1476G>C",
"hgvs_p": "p.Gln492His",
"transcript": "ENST00000881354.1",
"protein_id": "ENSP00000551413.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 558,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881354.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1395G>C",
"hgvs_p": "p.Gln465His",
"transcript": "NM_001288781.1",
"protein_id": "NP_001275710.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 531,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288781.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1476G>C",
"hgvs_p": "p.Gln492His",
"transcript": "ENST00000971774.1",
"protein_id": "ENSP00000641833.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 530,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971774.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1386G>C",
"hgvs_p": "p.Gln462His",
"transcript": "ENST00000936986.1",
"protein_id": "ENSP00000607045.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 528,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936986.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1317G>C",
"hgvs_p": "p.Gln439His",
"transcript": "NM_198309.3",
"protein_id": "NP_938051.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 505,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198309.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1305G>C",
"hgvs_p": "p.Gln435His",
"transcript": "ENST00000971773.1",
"protein_id": "ENSP00000641832.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 501,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971773.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1386G>C",
"hgvs_p": "p.Gln462His",
"transcript": "ENST00000971771.1",
"protein_id": "ENSP00000641830.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 500,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971771.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1290G>C",
"hgvs_p": "p.Gln430His",
"transcript": "ENST00000881356.1",
"protein_id": "ENSP00000551415.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 496,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881356.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1347G>C",
"hgvs_p": "p.Gln449His",
"transcript": "ENST00000971776.1",
"protein_id": "ENSP00000641835.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 487,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971776.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1257G>C",
"hgvs_p": "p.Gln419His",
"transcript": "ENST00000971778.1",
"protein_id": "ENSP00000641837.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 485,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971778.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1317G>C",
"hgvs_p": "p.Gln439His",
"transcript": "NM_001366535.2",
"protein_id": "NP_001353464.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 477,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366535.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1317G>C",
"hgvs_p": "p.Gln439His",
"transcript": "ENST00000881353.1",
"protein_id": "ENSP00000551412.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 477,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881353.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1227G>C",
"hgvs_p": "p.Gln409His",
"transcript": "NM_198310.3",
"protein_id": "NP_938052.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 475,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198310.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Retinitis pigmentosa 51",
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}
],
"message": null
}