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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: 1-210387476-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=210387476&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 210387476,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000426968.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.-22C>T",
"hgvs_p": null,
"transcript": "ENST00000426968.2",
"protein_id": "ENSP00000413399.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426968.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.-206C>T",
"hgvs_p": null,
"transcript": "ENST00000545781.2",
"protein_id": "ENSP00000439229.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545781.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "NM_018194.6",
"protein_id": "NP_060664.2",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261458.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018194.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000261458.8",
"protein_id": "ENSP00000261458.3",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018194.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261458.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.-22C>T",
"hgvs_p": null,
"transcript": "ENST00000426968.2",
"protein_id": "ENSP00000413399.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426968.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.-206C>T",
"hgvs_p": null,
"transcript": "ENST00000545781.2",
"protein_id": "ENSP00000439229.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545781.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.-22C>T",
"hgvs_p": null,
"transcript": "XM_011509747.2",
"protein_id": "XP_011508049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509747.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.-22C>T",
"hgvs_p": null,
"transcript": "XM_047424823.1",
"protein_id": "XP_047280779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424823.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.-22C>T",
"hgvs_p": null,
"transcript": "XM_047424829.1",
"protein_id": "XP_047280785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424829.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Thr57Thr",
"transcript": "NM_001170587.3",
"protein_id": "NP_001164058.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 494,
"cds_start": 171,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170587.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Thr57Thr",
"transcript": "ENST00000545154.5",
"protein_id": "ENSP00000438468.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 494,
"cds_start": 171,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545154.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "NM_001122834.4",
"protein_id": "NP_001116306.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122834.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "NM_001170580.3",
"protein_id": "NP_001164051.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170580.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000367010.5",
"protein_id": "ENSP00000355977.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367010.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000413764.6",
"protein_id": "ENSP00000416845.2",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413764.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000857146.1",
"protein_id": "ENSP00000527205.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857146.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000857147.1",
"protein_id": "ENSP00000527206.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857147.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000857148.1",
"protein_id": "ENSP00000527207.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857148.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000857149.1",
"protein_id": "ENSP00000527208.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857149.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000969947.1",
"protein_id": "ENSP00000640006.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969947.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000969948.1",
"protein_id": "ENSP00000640007.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 493,
"cds_start": 168,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969948.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHAT",
"gene_hgnc_id": 18270,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"transcript": "NM_001170588.3",
"protein_id": "NP_001164059.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 428,
"cds_start": 168,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"phenotype_combined": "not provided",
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}
],
"message": null
}