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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: 8-11808828-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11808828&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11808828,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000220584.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "NM_004462.5",
"protein_id": "NP_004453.3",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 417,
"cds_start": 134,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": "ENST00000220584.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "ENST00000220584.9",
"protein_id": "ENSP00000220584.4",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 417,
"cds_start": 134,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": "NM_004462.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.100-839A>T",
"hgvs_p": null,
"transcript": "ENST00000529464.5",
"protein_id": "ENSP00000434770.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "NM_001287744.2",
"protein_id": "NP_001274673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "NM_001287745.2",
"protein_id": "NP_001274674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "NM_001287747.2",
"protein_id": "NP_001274676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "NM_001287748.2",
"protein_id": "NP_001274677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "NM_001287749.2",
"protein_id": "NP_001274678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "ENST00000528812.5",
"protein_id": "ENSP00000431749.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "ENST00000530664.5",
"protein_id": "ENSP00000432331.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "ENST00000622850.3",
"protein_id": "ENSP00000484122.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.-59A>T",
"hgvs_p": null,
"transcript": "ENST00000532266.5",
"protein_id": "ENSP00000435900.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.311A>T",
"hgvs_p": "p.Lys104Met",
"transcript": "NM_001287750.2",
"protein_id": "NP_001274679.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 476,
"cds_start": 311,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.311A>T",
"hgvs_p": "p.Lys104Met",
"transcript": "ENST00000525954.5",
"protein_id": "ENSP00000491537.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 476,
"cds_start": 311,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "NM_001287742.2",
"protein_id": "NP_001274671.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 417,
"cds_start": 134,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "NM_001287743.2",
"protein_id": "NP_001274672.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 417,
"cds_start": 134,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "ENST00000530337.6",
"protein_id": "ENSP00000431852.2",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 417,
"cds_start": 134,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "ENST00000615631.5",
"protein_id": "ENSP00000481481.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 417,
"cds_start": 134,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.113A>T",
"hgvs_p": "p.Lys38Met",
"transcript": "ENST00000525900.5",
"protein_id": "ENSP00000434714.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 410,
"cds_start": 113,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "ENST00000443614.6",
"protein_id": "ENSP00000390367.2",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 374,
"cds_start": 134,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.*193A>T",
"hgvs_p": null,
"transcript": "ENST00000525607.5",
"protein_id": "ENSP00000432551.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.339A>T",
"hgvs_p": null,
"transcript": "ENST00000531733.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.-59A>T",
"hgvs_p": null,
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}