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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: 20-21132125-AAACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=21132125&ref=AAACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 21132125,
"ref": "AAACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_018474.6",
"consequences": [
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "NM_018474.6",
"protein_id": "NP_060944.3",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 673,
"cds_start": 119,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619189.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018474.6"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "ENST00000619189.5",
"protein_id": "ENSP00000479542.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 673,
"cds_start": 119,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018474.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619189.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.-28_-25delAACT",
"hgvs_p": null,
"transcript": "ENST00000620891.4",
"protein_id": "ENSP00000478019.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620891.4"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "ENST00000962859.1",
"protein_id": "ENSP00000632918.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 670,
"cds_start": 119,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962859.1"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "NM_001352434.2",
"protein_id": "NP_001339363.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 655,
"cds_start": 119,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352434.2"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "ENST00000920799.1",
"protein_id": "ENSP00000590858.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 643,
"cds_start": 119,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920799.1"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "ENST00000920800.1",
"protein_id": "ENSP00000590859.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 626,
"cds_start": 119,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920800.1"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "ENST00000962858.1",
"protein_id": "ENSP00000632917.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 613,
"cds_start": 119,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962858.1"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "ENST00000920801.1",
"protein_id": "ENSP00000590860.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 326,
"cds_start": 119,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920801.1"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "ENST00000920802.1",
"protein_id": "ENSP00000590861.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 296,
"cds_start": 119,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920802.1"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "XM_011529296.4",
"protein_id": "XP_011527598.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 683,
"cds_start": 119,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529296.4"
},
{
"aa_ref": "KL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs",
"transcript": "XM_011529297.4",
"protein_id": "XP_011527599.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 665,
"cds_start": 119,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529297.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.-28_-25delAACT",
"hgvs_p": null,
"transcript": "NM_001163022.3",
"protein_id": "NP_001156494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163022.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.-268_-265delAACT",
"hgvs_p": null,
"transcript": "NM_001352436.2",
"protein_id": "NP_001339365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": null,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352436.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.-28_-25delAACT",
"hgvs_p": null,
"transcript": "NM_001352435.2",
"protein_id": "NP_001339364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352435.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.-28_-25delAACT",
"hgvs_p": null,
"transcript": "NM_001163023.3",
"protein_id": "NP_001156495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163023.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.-28_-25delAACT",
"hgvs_p": null,
"transcript": "ENST00000616848.4",
"protein_id": "ENSP00000480612.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616848.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.-28_-25delAACT",
"hgvs_p": null,
"transcript": "XM_011529299.4",
"protein_id": "XP_011527601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529299.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.168+5922_168+5925delAACT",
"hgvs_p": null,
"transcript": "NM_001276389.2",
"protein_id": "NP_001263318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276389.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.168+5922_168+5925delAACT",
"hgvs_p": null,
"transcript": "ENST00000619574.4",
"protein_id": "ENSP00000484706.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619574.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.165+5922_165+5925delAACT",
"hgvs_p": null,
"transcript": "ENST00000611685.4",
"protein_id": "ENSP00000483644.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611685.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"hgvs_c": "c.89+5922_89+5925delAACT",
"hgvs_p": null,
"transcript": "ENST00000902219.1",
"protein_id": "ENSP00000572278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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{
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{
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{
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{
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"3_prime_UTR_variant"
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"exon_count": 4,
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"gene_symbol": "KIZ",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000612654.1"
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],
"gene_symbol": "KIZ",
"gene_hgnc_id": 15865,
"dbsnp": "rs587777377",
"frequency_reference_population": 0.000103815495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 152,
"gnomad_exomes_af": 0.000105952,
"gnomad_genomes_af": 0.0000854005,
"gnomad_exomes_ac": 139,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.98,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_018474.6",
"gene_symbol": "KIZ",
"hgnc_id": 15865,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.119_122delAACT",
"hgvs_p": "p.Lys40fs"
}
],
"clinvar_disease": "Retinal dystrophy,Retinitis pigmentosa,Retinitis pigmentosa 69,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Retinitis pigmentosa 69|Retinal dystrophy|not provided|Retinitis pigmentosa",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}