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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: 18-31849666-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31849666&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31849666,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014939.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3635C>A",
"hgvs_p": "p.Ala1212Asp",
"transcript": "NM_014939.5",
"protein_id": "NP_055754.3",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3999,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": "ENST00000283351.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014939.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3635C>A",
"hgvs_p": "p.Ala1212Asp",
"transcript": "ENST00000283351.10",
"protein_id": "ENSP00000283351.4",
"transcript_support_level": 1,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3999,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": "NM_014939.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283351.10"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3473C>A",
"hgvs_p": "p.Ala1158Asp",
"transcript": "ENST00000582539.5",
"protein_id": "ENSP00000463764.1",
"transcript_support_level": 1,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3473,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3553,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582539.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3638C>A",
"hgvs_p": "p.Ala1213Asp",
"transcript": "ENST00000865828.1",
"protein_id": "ENSP00000535887.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865828.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3635C>A",
"hgvs_p": "p.Ala1212Asp",
"transcript": "ENST00000923366.1",
"protein_id": "ENSP00000593425.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3844,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923366.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3638C>A",
"hgvs_p": "p.Ala1213Asp",
"transcript": "ENST00000865829.1",
"protein_id": "ENSP00000535888.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3989,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865829.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3635C>A",
"hgvs_p": "p.Ala1212Asp",
"transcript": "ENST00000865827.1",
"protein_id": "ENSP00000535886.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 4104,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865827.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3440C>A",
"hgvs_p": "p.Ala1147Asp",
"transcript": "ENST00000923367.1",
"protein_id": "ENSP00000593426.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3440,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 5303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923367.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3638C>A",
"hgvs_p": "p.Ala1213Asp",
"transcript": "XM_005258233.4",
"protein_id": "XP_005258290.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 4002,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258233.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3563C>A",
"hgvs_p": "p.Ala1188Asp",
"transcript": "XM_047437353.1",
"protein_id": "XP_047293309.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3563,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437353.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3560C>A",
"hgvs_p": "p.Ala1187Asp",
"transcript": "XM_017025615.2",
"protein_id": "XP_016881104.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3560,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025615.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3638C>A",
"hgvs_p": "p.Ala1213Asp",
"transcript": "XM_005258234.4",
"protein_id": "XP_005258291.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4002,
"cdna_end": null,
"cdna_length": 6143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258234.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3635C>A",
"hgvs_p": "p.Ala1212Asp",
"transcript": "XM_017025616.3",
"protein_id": "XP_016881105.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 3999,
"cdna_end": null,
"cdna_length": 6140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025616.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3638C>A",
"hgvs_p": "p.Ala1213Asp",
"transcript": "XM_006722420.5",
"protein_id": "XP_006722483.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 4002,
"cdna_end": null,
"cdna_length": 9147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722420.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3635C>A",
"hgvs_p": "p.Ala1212Asp",
"transcript": "XM_047437354.1",
"protein_id": "XP_047293310.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3999,
"cdna_end": null,
"cdna_length": 9144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437354.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3638C>A",
"hgvs_p": "p.Ala1213Asp",
"transcript": "XM_047437355.1",
"protein_id": "XP_047293311.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 4002,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437355.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3635C>A",
"hgvs_p": "p.Ala1212Asp",
"transcript": "XM_047437356.1",
"protein_id": "XP_047293312.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3635,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 3999,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437356.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.2813C>A",
"hgvs_p": "p.Ala938Asp",
"transcript": "XM_005258235.4",
"protein_id": "XP_005258292.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2874,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258235.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "c.3561+2780C>A",
"hgvs_p": null,
"transcript": "ENST00000865830.1",
"protein_id": "ENSP00000535889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1377,
"cds_start": null,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "n.411C>A",
"hgvs_p": null,
"transcript": "ENST00000578886.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "n.*592C>A",
"hgvs_p": null,
"transcript": "ENST00000580104.5",
"protein_id": "ENSP00000462550.1",
"transcript_support_level": 2,
"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": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000580104.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"hgvs_c": "n.*592C>A",
"hgvs_p": null,
"transcript": "ENST00000580104.5",
"protein_id": "ENSP00000462550.1",
"transcript_support_level": 2,
"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": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000580104.5"
}
],
"gene_symbol": "TRAPPC8",
"gene_hgnc_id": 29169,
"dbsnp": "rs770298970",
"frequency_reference_population": 6.847036e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84704e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030968457460403442,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0889,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.129,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014939.5",
"gene_symbol": "TRAPPC8",
"hgnc_id": 29169,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3635C>A",
"hgvs_p": "p.Ala1212Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}