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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: 12-109533505-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109533505&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109533505,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_130466.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "NM_130466.4",
"protein_id": "NP_569733.2",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342494.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130466.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "ENST00000342494.8",
"protein_id": "ENSP00000340596.3",
"transcript_support_level": 1,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130466.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342494.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "ENST00000434735.6",
"protein_id": "ENSP00000391529.2",
"transcript_support_level": 1,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434735.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.*943G>T",
"hgvs_p": null,
"transcript": "ENST00000449510.6",
"protein_id": "ENSP00000395802.2",
"transcript_support_level": 5,
"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": "ENST00000449510.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.*943G>T",
"hgvs_p": null,
"transcript": "ENST00000449510.6",
"protein_id": "ENSP00000395802.2",
"transcript_support_level": 5,
"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": "ENST00000449510.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "NM_183415.3",
"protein_id": "NP_904324.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183415.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "ENST00000861742.1",
"protein_id": "ENSP00000531801.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861742.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "ENST00000861743.1",
"protein_id": "ENSP00000531802.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861743.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "ENST00000861744.1",
"protein_id": "ENSP00000531803.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861744.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2959G>T",
"hgvs_p": "p.Ala987Ser",
"transcript": "ENST00000962216.1",
"protein_id": "ENSP00000632275.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2959,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962216.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2824G>T",
"hgvs_p": "p.Ala942Ser",
"transcript": "ENST00000861745.1",
"protein_id": "ENSP00000531804.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861745.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2824G>T",
"hgvs_p": "p.Ala942Ser",
"transcript": "ENST00000962217.1",
"protein_id": "ENSP00000632276.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962217.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.295G>T",
"hgvs_p": "p.Ala99Ser",
"transcript": "ENST00000605142.1",
"protein_id": "ENSP00000474360.1",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 175,
"cds_start": 295,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605142.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_005253987.3",
"protein_id": "XP_005254044.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253987.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_011538959.3",
"protein_id": "XP_011537261.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538959.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_047429844.1",
"protein_id": "XP_047285800.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429844.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_047429845.1",
"protein_id": "XP_047285801.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429845.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_006719681.4",
"protein_id": "XP_006719744.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719681.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_047429846.1",
"protein_id": "XP_047285802.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429846.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_047429847.1",
"protein_id": "XP_047285803.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429847.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_047429848.1",
"protein_id": "XP_047285804.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429848.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Ala988Ser",
"transcript": "XM_006719682.3",
"protein_id": "XP_006719745.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1043,
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}