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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: 11-31794699-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31794699&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31794699,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000640368.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "NM_001368894.2",
"protein_id": "NP_001355823.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 436,
"cds_start": 655,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": "ENST00000640368.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "ENST00000640368.2",
"protein_id": "ENSP00000492024.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 436,
"cds_start": 655,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": "NM_001368894.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "ENST00000419022.6",
"protein_id": "ENSP00000404100.1",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 436,
"cds_start": 655,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 6888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "ENST00000638914.3",
"protein_id": "ENSP00000492315.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 436,
"cds_start": 655,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 6922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "ENST00000639409.1",
"protein_id": "ENSP00000492476.1",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 436,
"cds_start": 655,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "ENST00000640975.1",
"protein_id": "ENSP00000491872.1",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 436,
"cds_start": 655,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"transcript": "ENST00000241001.13",
"protein_id": "ENSP00000241001.8",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 422,
"cds_start": 613,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"transcript": "ENST00000639916.1",
"protein_id": "ENSP00000490963.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 422,
"cds_start": 613,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"transcript": "ENST00000640610.1",
"protein_id": "ENSP00000491295.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 422,
"cds_start": 613,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"transcript": "ENST00000640287.1",
"protein_id": "ENSP00000492822.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 421,
"cds_start": 613,
"cds_end": null,
"cds_length": 1267,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.205C>G",
"hgvs_p": "p.Gln69Glu",
"transcript": "ENST00000640872.1",
"protein_id": "ENSP00000491065.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 280,
"cds_start": 205,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.856C>G",
"hgvs_p": "p.Gln286Glu",
"transcript": "NM_001368910.2",
"protein_id": "NP_001355839.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 503,
"cds_start": 856,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.658C>G",
"hgvs_p": "p.Gln220Glu",
"transcript": "NM_001368911.2",
"protein_id": "NP_001355840.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 488,
"cds_start": 658,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "NM_001368912.2",
"protein_id": "NP_001355841.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 487,
"cds_start": 655,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "NM_001368913.2",
"protein_id": "NP_001355842.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 487,
"cds_start": 655,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu",
"transcript": "NM_001368914.2",
"protein_id": "NP_001355843.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 487,
"cds_start": 655,
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"cdna_start": 1081,
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"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"transcript": "NM_001368915.2",
"protein_id": "NP_001355844.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 473,
"cds_start": 613,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"transcript": "NM_001368916.2",
"protein_id": "NP_001355845.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 473,
"cds_start": 613,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"transcript": "NM_001368917.2",
"protein_id": "NP_001355846.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 473,
"cds_start": 613,
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"cdna_start": 1137,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"transcript": "ENST00000638963.1",
"protein_id": "ENSP00000491948.1",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 473,
"cds_start": 613,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Gln244Glu",
"transcript": "NM_001368918.2",
"protein_id": "NP_001355847.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 461,
"cds_start": 730,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Gln244Glu",
"transcript": "NM_001368919.2",
"protein_id": "NP_001355848.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 461,
"cds_start": 730,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.688C>G",
"hgvs_p": "p.Gln230Glu",
"transcript": "NM_001368920.2",
"protein_id": "NP_001355849.1",
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{
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{
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{
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],
"gene_symbol": "PAX6",
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"dbsnp": "rs121907924",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6478196382522583,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.511,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2",
"acmg_by_gene": [
{
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"criteria": [
"PM1",
"PM2",
"PP2"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000640368.2",
"gene_symbol": "PAX6",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Gln219Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}