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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: 11-31801754-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31801754&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31801754,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001368910.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "NM_001368894.2",
"protein_id": "NP_001355823.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 436,
"cds_start": 206,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640368.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368894.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "ENST00000640368.2",
"protein_id": "ENSP00000492024.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 436,
"cds_start": 206,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001368894.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640368.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "ENST00000419022.6",
"protein_id": "ENSP00000404100.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 436,
"cds_start": 206,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419022.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "ENST00000638914.3",
"protein_id": "ENSP00000492315.2",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 436,
"cds_start": 206,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638914.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "ENST00000639409.1",
"protein_id": "ENSP00000492476.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 436,
"cds_start": 206,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639409.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "ENST00000640975.1",
"protein_id": "ENSP00000491872.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 436,
"cds_start": 206,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640975.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Lys55Thr",
"transcript": "ENST00000241001.13",
"protein_id": "ENSP00000241001.8",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 422,
"cds_start": 164,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241001.13"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Lys55Thr",
"transcript": "ENST00000639916.1",
"protein_id": "ENSP00000490963.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 422,
"cds_start": 164,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639916.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Lys55Thr",
"transcript": "ENST00000640610.1",
"protein_id": "ENSP00000491295.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 422,
"cds_start": 164,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640610.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Lys55Thr",
"transcript": "ENST00000640287.1",
"protein_id": "ENSP00000492822.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 421,
"cds_start": 164,
"cds_end": null,
"cds_length": 1267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.-245A>C",
"hgvs_p": null,
"transcript": "ENST00000640872.1",
"protein_id": "ENSP00000491065.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640872.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.407A>C",
"hgvs_p": "p.Lys136Thr",
"transcript": "NM_001368910.2",
"protein_id": "NP_001355839.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 503,
"cds_start": 407,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368910.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.209A>C",
"hgvs_p": "p.Lys70Thr",
"transcript": "NM_001368911.2",
"protein_id": "NP_001355840.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 488,
"cds_start": 209,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368911.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "NM_001368912.2",
"protein_id": "NP_001355841.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 487,
"cds_start": 206,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368912.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "NM_001368913.2",
"protein_id": "NP_001355842.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 487,
"cds_start": 206,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368913.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.206A>C",
"hgvs_p": "p.Lys69Thr",
"transcript": "NM_001368914.2",
"protein_id": "NP_001355843.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 487,
"cds_start": 206,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368914.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Lys55Thr",
"transcript": "NM_001368915.2",
"protein_id": "NP_001355844.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 473,
"cds_start": 164,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368915.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Lys55Thr",
"transcript": "NM_001368916.2",
"protein_id": "NP_001355845.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 473,
"cds_start": 164,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368916.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Lys55Thr",
"transcript": "NM_001368917.2",
"protein_id": "NP_001355846.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 473,
"cds_start": 164,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368917.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Lys55Thr",
"transcript": "ENST00000638963.1",
"protein_id": "ENSP00000491948.1",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 473,
"cds_start": 164,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638963.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.281A>C",
"hgvs_p": "p.Lys94Thr",
"transcript": "NM_001368918.2",
"protein_id": "NP_001355847.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 461,
"cds_start": 281,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368918.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.281A>C",
"hgvs_p": "p.Lys94Thr",
"transcript": "NM_001368919.2",
"protein_id": "NP_001355848.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 461,
"cds_start": 281,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368919.2"
},
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"biotype": "pseudogene",
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],
"gene_symbol": "PAX6",
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"dbsnp": "rs1131692294",
"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,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9879746437072754,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.988,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.982,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.12,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001368910.2",
"gene_symbol": "PAX6",
"hgnc_id": 8620,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.407A>C",
"hgvs_p": "p.Lys136Thr"
}
],
"clinvar_disease": "Aniridia 1",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Aniridia 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}