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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: 11-31793795-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31793795&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31793795,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000640368.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "NM_001368894.2",
"protein_id": "NP_001355823.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 436,
"cds_start": 815,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": "ENST00000640368.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "ENST00000640368.2",
"protein_id": "ENSP00000492024.1",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 436,
"cds_start": 815,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": "NM_001368894.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "ENST00000419022.6",
"protein_id": "ENSP00000404100.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 436,
"cds_start": 815,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 6888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "ENST00000638914.3",
"protein_id": "ENSP00000492315.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 436,
"cds_start": 815,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 6922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "ENST00000639409.1",
"protein_id": "ENSP00000492476.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 436,
"cds_start": 815,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "ENST00000640975.1",
"protein_id": "ENSP00000491872.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 436,
"cds_start": 815,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Phe258Ser",
"transcript": "ENST00000241001.13",
"protein_id": "ENSP00000241001.8",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 422,
"cds_start": 773,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Phe258Ser",
"transcript": "ENST00000639916.1",
"protein_id": "ENSP00000490963.1",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 422,
"cds_start": 773,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Phe258Ser",
"transcript": "ENST00000640610.1",
"protein_id": "ENSP00000491295.1",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 422,
"cds_start": 773,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Phe258Ser",
"transcript": "ENST00000640287.1",
"protein_id": "ENSP00000492822.1",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 421,
"cds_start": 773,
"cds_end": null,
"cds_length": 1267,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.365T>C",
"hgvs_p": "p.Phe122Ser",
"transcript": "ENST00000640872.1",
"protein_id": "ENSP00000491065.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 365,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1016T>C",
"hgvs_p": "p.Phe339Ser",
"transcript": "NM_001368910.2",
"protein_id": "NP_001355839.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 503,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.818T>C",
"hgvs_p": "p.Phe273Ser",
"transcript": "NM_001368911.2",
"protein_id": "NP_001355840.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 488,
"cds_start": 818,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "NM_001368912.2",
"protein_id": "NP_001355841.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 487,
"cds_start": 815,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "NM_001368913.2",
"protein_id": "NP_001355842.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 487,
"cds_start": 815,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser",
"transcript": "NM_001368914.2",
"protein_id": "NP_001355843.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 487,
"cds_start": 815,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Phe258Ser",
"transcript": "NM_001368915.2",
"protein_id": "NP_001355844.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 473,
"cds_start": 773,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Phe258Ser",
"transcript": "NM_001368916.2",
"protein_id": "NP_001355845.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 473,
"cds_start": 773,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Phe258Ser",
"transcript": "NM_001368917.2",
"protein_id": "NP_001355846.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 473,
"cds_start": 773,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Phe258Ser",
"transcript": "ENST00000638963.1",
"protein_id": "ENSP00000491948.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 473,
"cds_start": 773,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.890T>C",
"hgvs_p": "p.Phe297Ser",
"transcript": "NM_001368918.2",
"protein_id": "NP_001355847.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 461,
"cds_start": 890,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.890T>C",
"hgvs_p": "p.Phe297Ser",
"transcript": "NM_001368919.2",
"protein_id": "NP_001355848.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 461,
"cds_start": 890,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.848T>C",
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{
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},
{
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},
{
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"gene_symbol": "PAX6",
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"hgvs_c": "n.*654T>C",
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"transcript": "ENST00000639394.1",
"protein_id": "ENSP00000492177.1",
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}
],
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"dbsnp": "rs121907925",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.988438069820404,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.978,
"revel_prediction": "Pathogenic",
"alphamissense_score": 1,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.684,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000640368.2",
"gene_symbol": "PAX6",
"hgnc_id": 8620,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Phe272Ser"
}
],
"clinvar_disease": " autosomal dominant, ocular,Coloboma",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Coloboma, ocular, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}