← Back to variant description
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: 6-30108167-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30108167&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30108167,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_007028.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ser257Gly",
"transcript": "NM_007028.5",
"protein_id": "NP_008959.3",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 425,
"cds_start": 769,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": "ENST00000376734.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007028.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ser257Gly",
"transcript": "ENST00000376734.4",
"protein_id": "ENSP00000365924.3",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 425,
"cds_start": 769,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": "NM_007028.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376734.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ser257Gly",
"transcript": "ENST00000873800.1",
"protein_id": "ENSP00000543859.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 425,
"cds_start": 769,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873800.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ser257Gly",
"transcript": "ENST00000960267.1",
"protein_id": "ENSP00000630326.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 425,
"cds_start": 769,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960267.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ser257Gly",
"transcript": "ENST00000960266.1",
"protein_id": "ENSP00000630325.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 380,
"cds_start": 769,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960266.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ser257Gly",
"transcript": "XM_011514265.2",
"protein_id": "XP_011512567.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 421,
"cds_start": 769,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514265.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.*2A>G",
"hgvs_p": null,
"transcript": "XM_011514266.1",
"protein_id": "XP_011512568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514266.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.768-2A>G",
"hgvs_p": null,
"transcript": "ENST00000873799.1",
"protein_id": "ENSP00000543858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.768-2A>G",
"hgvs_p": null,
"transcript": "XM_011514264.2",
"protein_id": "XP_011512566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514264.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "c.768-2A>G",
"hgvs_p": null,
"transcript": "XM_047418110.1",
"protein_id": "XP_047274066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "n.33A>G",
"hgvs_p": null,
"transcript": "ENST00000468264.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 517,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "n.459A>G",
"hgvs_p": null,
"transcript": "ENST00000485864.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 620,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485864.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.851T>C",
"hgvs_p": null,
"transcript": "ENST00000835549.1",
"protein_id": null,
"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": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "n.879A>G",
"hgvs_p": null,
"transcript": "NR_134870.2",
"protein_id": null,
"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": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134870.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.273+380T>C",
"hgvs_p": null,
"transcript": "ENST00000440874.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000440874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.139-6404T>C",
"hgvs_p": null,
"transcript": "ENST00000835546.1",
"protein_id": null,
"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": 292,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.627+146T>C",
"hgvs_p": null,
"transcript": "ENST00000835547.1",
"protein_id": null,
"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": 903,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.216+380T>C",
"hgvs_p": null,
"transcript": "ENST00000835548.1",
"protein_id": null,
"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": 492,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.273+380T>C",
"hgvs_p": null,
"transcript": "NR_126470.1",
"protein_id": null,
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_126470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"hgvs_c": "n.855-43A>G",
"hgvs_p": null,
"transcript": "NR_134871.2",
"protein_id": null,
"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": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134871.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.*104T>C",
"hgvs_p": null,
"transcript": "ENST00000835550.1",
"protein_id": null,
"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": 704,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.*111T>C",
"hgvs_p": null,
"transcript": "ENST00000835551.1",
"protein_id": null,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835551.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM31-AS1",
"gene_hgnc_id": 39761,
"hgvs_c": "n.*108T>C",
"hgvs_p": null,
"transcript": "ENST00000835552.1",
"protein_id": null,
"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": 778,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835552.1"
}
],
"gene_symbol": "TRIM31",
"gene_hgnc_id": 16289,
"dbsnp": "rs377565993",
"frequency_reference_population": 0.000043780812,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000179678,
"gnomad_genomes_af": 0.000289771,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01618337631225586,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.017999999225139618,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.1334,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.339,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000265767454236509,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_007028.5",
"gene_symbol": "TRIM31",
"hgnc_id": 16289,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ser257Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000835549.1",
"gene_symbol": "TRIM31-AS1",
"hgnc_id": 39761,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.851T>C",
"hgvs_p": null
}
],
"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
}