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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: 6-29942594-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=29942594&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 29942594,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000376809.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "NM_002116.8",
"protein_id": "NP_002107.3",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 365,
"cds_start": 41,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 63,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": "ENST00000376809.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000376809.10",
"protein_id": "ENSP00000366005.5",
"transcript_support_level": 6,
"aa_start": 14,
"aa_end": null,
"aa_length": 365,
"cds_start": 41,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 63,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": "NM_002116.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000706894.1",
"protein_id": "ENSP00000516610.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 394,
"cds_start": 41,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000376806.9",
"protein_id": "ENSP00000366002.5",
"transcript_support_level": 6,
"aa_start": 14,
"aa_end": null,
"aa_length": 371,
"cds_start": 41,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000706898.1",
"protein_id": "ENSP00000516611.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 371,
"cds_start": 41,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000706904.1",
"protein_id": "ENSP00000516615.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 366,
"cds_start": 41,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000396634.5",
"protein_id": "ENSP00000379873.1",
"transcript_support_level": 6,
"aa_start": 14,
"aa_end": null,
"aa_length": 365,
"cds_start": 41,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000706901.1",
"protein_id": "ENSP00000516612.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 365,
"cds_start": 41,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000706905.1",
"protein_id": "ENSP00000516616.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 365,
"cds_start": 41,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000714446.1",
"protein_id": "ENSP00000519715.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 329,
"cds_start": 41,
"cds_end": null,
"cds_length": 990,
"cdna_start": 63,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000638375.2",
"protein_id": "ENSP00000492789.2",
"transcript_support_level": 6,
"aa_start": 14,
"aa_end": null,
"aa_length": 326,
"cds_start": 41,
"cds_end": null,
"cds_length": 981,
"cdna_start": 41,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "c.41C>A",
"hgvs_p": "p.Ser14*",
"transcript": "ENST00000376802.2",
"protein_id": "ENSP00000365998.2",
"transcript_support_level": 6,
"aa_start": 14,
"aa_end": null,
"aa_length": 299,
"cds_start": 41,
"cds_end": null,
"cds_length": 900,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227766",
"gene_hgnc_id": null,
"hgvs_c": "n.474G>T",
"hgvs_p": null,
"transcript": "ENST00000429656.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 993,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.41C>A",
"hgvs_p": null,
"transcript": "ENST00000461903.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1352,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.41C>A",
"hgvs_p": null,
"transcript": "ENST00000479320.5",
"protein_id": null,
"transcript_support_level": 6,
"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": 1334,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.43C>A",
"hgvs_p": null,
"transcript": "ENST00000495183.5",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1766,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.47C>A",
"hgvs_p": null,
"transcript": "ENST00000496081.5",
"protein_id": null,
"transcript_support_level": 6,
"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": 1786,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.317C>A",
"hgvs_p": null,
"transcript": "ENST00000706892.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3050,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.41C>A",
"hgvs_p": null,
"transcript": "ENST00000706893.1",
"protein_id": "ENSP00000516609.1",
"transcript_support_level": null,
"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": 1696,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.317C>A",
"hgvs_p": null,
"transcript": "ENST00000706895.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2422,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.317C>A",
"hgvs_p": null,
"transcript": "ENST00000706896.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2772,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.317C>A",
"hgvs_p": null,
"transcript": "ENST00000706897.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2194,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-A",
"gene_hgnc_id": 4931,
"hgvs_c": "n.317C>A",
"hgvs_p": null,
"transcript": "ENST00000706899.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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},
{
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}