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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: 12-121430436-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121430436&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121430436,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001439014.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3863T>C",
"hgvs_p": "p.Phe1288Ser",
"transcript": "NM_032590.5",
"protein_id": "NP_115979.3",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3863,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377071.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032590.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3863T>C",
"hgvs_p": "p.Phe1288Ser",
"transcript": "ENST00000377071.9",
"protein_id": "ENSP00000366271.3",
"transcript_support_level": 1,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3863,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032590.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377071.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "n.*1599T>C",
"hgvs_p": null,
"transcript": "ENST00000543025.5",
"protein_id": "ENSP00000438138.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000543025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "n.*1599T>C",
"hgvs_p": null,
"transcript": "ENST00000543025.5",
"protein_id": "ENSP00000438138.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000543025.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3959T>C",
"hgvs_p": "p.Phe1320Ser",
"transcript": "NM_001439014.1",
"protein_id": "NP_001425943.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3959,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439014.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3959T>C",
"hgvs_p": "p.Phe1320Ser",
"transcript": "NM_001439015.1",
"protein_id": "NP_001425944.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3959,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439015.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3941T>C",
"hgvs_p": "p.Phe1314Ser",
"transcript": "NM_001439016.1",
"protein_id": "NP_001425945.1",
"transcript_support_level": null,
"aa_start": 1314,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3941,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439016.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3878T>C",
"hgvs_p": "p.Phe1293Ser",
"transcript": "ENST00000717755.1",
"protein_id": "ENSP00000520643.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000717755.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3878T>C",
"hgvs_p": "p.Phe1293Ser",
"transcript": "ENST00000717756.1",
"protein_id": "ENSP00000520644.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000717756.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3863T>C",
"hgvs_p": "p.Phe1288Ser",
"transcript": "NM_001439017.1",
"protein_id": "NP_001425946.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3863,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439017.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3863T>C",
"hgvs_p": "p.Phe1288Ser",
"transcript": "NM_001439018.1",
"protein_id": "NP_001425947.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3863,
"cds_end": null,
"cds_length": 4005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439018.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3848T>C",
"hgvs_p": "p.Phe1283Ser",
"transcript": "NM_001439020.1",
"protein_id": "NP_001425949.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3848,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439020.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3830T>C",
"hgvs_p": "p.Phe1277Ser",
"transcript": "NM_001439021.1",
"protein_id": "NP_001425950.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3830,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439021.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3800T>C",
"hgvs_p": "p.Phe1267Ser",
"transcript": "NM_001439022.1",
"protein_id": "NP_001425951.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3800,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439022.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3800T>C",
"hgvs_p": "p.Phe1267Ser",
"transcript": "NM_001439023.1",
"protein_id": "NP_001425952.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1313,
"cds_start": 3800,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439023.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3770T>C",
"hgvs_p": "p.Phe1257Ser",
"transcript": "NM_001439025.1",
"protein_id": "NP_001425954.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3770,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439025.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3770T>C",
"hgvs_p": "p.Phe1257Ser",
"transcript": "NM_001439026.1",
"protein_id": "NP_001425955.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3770,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439026.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3752T>C",
"hgvs_p": "p.Phe1251Ser",
"transcript": "NM_001439028.1",
"protein_id": "NP_001425957.1",
"transcript_support_level": null,
"aa_start": 1251,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3752,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439028.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Phe1229Ser",
"transcript": "NM_001439029.1",
"protein_id": "NP_001425958.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1277,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439029.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3656T>C",
"hgvs_p": "p.Phe1219Ser",
"transcript": "NM_001005366.2",
"protein_id": "NP_001005366.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3656,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005366.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3656T>C",
"hgvs_p": "p.Phe1219Ser",
"transcript": "ENST00000377069.8",
"protein_id": "ENSP00000366269.3",
"transcript_support_level": 2,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3656,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377069.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3467T>C",
"hgvs_p": "p.Phe1156Ser",
"transcript": "ENST00000717751.1",
"protein_id": "ENSP00000520640.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1204,
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"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "n.*3087T>C",
"hgvs_p": null,
"transcript": "ENST00000717754.1",
"protein_id": "ENSP00000520642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000717754.1"
}
],
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"dbsnp": "rs782287592",
"frequency_reference_population": 0.0000024783976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": 0.0000131503,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13162869215011597,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
"alphamissense_score": 0.9005,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.676,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001439014.1",
"gene_symbol": "KDM2B",
"hgnc_id": 13610,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3959T>C",
"hgvs_p": "p.Phe1320Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000392464.3",
"gene_symbol": "RNF34",
"hgnc_id": 17297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1466A>G",
"hgvs_p": "p.Glu489Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}