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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: 1-209760067-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=209760067&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 209760067,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025228.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "NM_025228.4",
"protein_id": "NP_079504.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 551,
"cds_start": 28,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367025.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025228.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000367025.8",
"protein_id": "ENSP00000355992.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 551,
"cds_start": 28,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025228.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367025.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000367026.7",
"protein_id": "ENSP00000355993.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 531,
"cds_start": 28,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367026.7"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "n.28C>T",
"hgvs_p": null,
"transcript": "ENST00000478359.5",
"protein_id": "ENSP00000417665.1",
"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": "ENST00000478359.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "NM_001320143.2",
"protein_id": "NP_001307072.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 551,
"cds_start": 28,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320143.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000367024.5",
"protein_id": "ENSP00000355991.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 551,
"cds_start": 28,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367024.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000884882.1",
"protein_id": "ENSP00000554941.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 551,
"cds_start": 28,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884882.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "NM_001320144.2",
"protein_id": "NP_001307073.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 531,
"cds_start": 28,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320144.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000884881.1",
"protein_id": "ENSP00000554940.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 531,
"cds_start": 28,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884881.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000884880.1",
"protein_id": "ENSP00000554939.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 530,
"cds_start": 28,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884880.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000884884.1",
"protein_id": "ENSP00000554943.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 511,
"cds_start": 28,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884884.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000884883.1",
"protein_id": "ENSP00000554942.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 510,
"cds_start": 28,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884883.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000957589.1",
"protein_id": "ENSP00000627648.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 490,
"cds_start": 28,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957589.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000400959.7",
"protein_id": "ENSP00000383743.3",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 404,
"cds_start": 28,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400959.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "ENST00000479796.5",
"protein_id": "ENSP00000419180.1",
"transcript_support_level": 4,
"aa_start": 10,
"aa_end": null,
"aa_length": 25,
"cds_start": 28,
"cds_end": null,
"cds_length": 78,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479796.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "XM_017002400.3",
"protein_id": "XP_016857889.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 483,
"cds_start": 28,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002400.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "XM_047430963.1",
"protein_id": "XP_047286919.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 461,
"cds_start": 28,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430963.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "XM_047430964.1",
"protein_id": "XP_047286920.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 449,
"cds_start": 28,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430964.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "XM_011510018.4",
"protein_id": "XP_011508320.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 424,
"cds_start": 28,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510018.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "XM_011510019.3",
"protein_id": "XP_011508321.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 309,
"cds_start": 28,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510019.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser",
"transcript": "XM_047430976.1",
"protein_id": "XP_047286932.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 284,
"cds_start": 28,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430976.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "n.444C>T",
"hgvs_p": null,
"transcript": "NR_109871.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109871.2"
},
{
"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": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "n.276-105C>T",
"hgvs_p": null,
"transcript": "ENST00000468672.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468672.5"
}
],
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"dbsnp": "rs2077218893",
"frequency_reference_population": 6.841452e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84145e-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": 0.09680202603340149,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0912,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.044,
"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_025228.4",
"gene_symbol": "TRAF3IP3",
"hgnc_id": 30766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Pro10Ser"
}
],
"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
}