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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: 6-137876103-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137876103&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137876103,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000612899.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "NM_001270508.2",
"protein_id": "NP_001257437.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": "ENST00000612899.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "ENST00000612899.5",
"protein_id": "ENSP00000481570.1",
"transcript_support_level": 5,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": "NM_001270508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "ENST00000237289.8",
"protein_id": "ENSP00000237289.4",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 4432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "NM_001270507.2",
"protein_id": "NP_001257436.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "NM_006290.4",
"protein_id": "NP_006281.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 4617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "ENST00000420009.6",
"protein_id": "ENSP00000401562.2",
"transcript_support_level": 3,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "ENST00000421450.2",
"protein_id": "ENSP00000393577.2",
"transcript_support_level": 2,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "ENST00000433680.2",
"protein_id": "ENSP00000409845.2",
"transcript_support_level": 3,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Ile263Val",
"transcript": "XM_047419282.1",
"protein_id": "XP_047275238.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 805,
"cds_start": 787,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "XM_005267119.1",
"protein_id": "XP_005267176.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "XM_011536095.2",
"protein_id": "XP_011534397.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "XM_024446532.2",
"protein_id": "XP_024302300.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "XM_024446533.2",
"protein_id": "XP_024302301.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "XM_047419283.1",
"protein_id": "XP_047275239.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 790,
"cds_start": 742,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "XM_011536096.3",
"protein_id": "XP_011534398.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 689,
"cds_start": 742,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "XM_047419284.1",
"protein_id": "XP_047275240.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 689,
"cds_start": 742,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 4435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val",
"transcript": "XM_047419285.1",
"protein_id": "XP_047275241.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 689,
"cds_start": 742,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "n.1363A>G",
"hgvs_p": null,
"transcript": "ENST00000485192.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "n.1091A>G",
"hgvs_p": null,
"transcript": "ENST00000698329.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "n.*465A>G",
"hgvs_p": null,
"transcript": "ENST00000711061.1",
"protein_id": "ENSP00000518561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "n.*465A>G",
"hgvs_p": null,
"transcript": "ENST00000711061.1",
"protein_id": "ENSP00000518561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TNFAIP3",
"gene_hgnc_id": 11896,
"hgvs_c": "n.296-2329A>G",
"hgvs_p": null,
"transcript": "ENST00000698330.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287393",
"gene_hgnc_id": null,
"hgvs_c": "n.435-193T>C",
"hgvs_p": null,
"transcript": "ENST00000763344.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNFAIP3",
"gene_hgnc_id": 11896,
"dbsnp": "rs587778711",
"frequency_reference_population": 0.00013568555,
"hom_count_reference_population": 0,
"allele_count_reference_population": 219,
"gnomad_exomes_af": 0.000142968,
"gnomad_genomes_af": 0.0000657203,
"gnomad_exomes_ac": 209,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19259560108184814,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.0723,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.573,
"phylop100way_prediction": "Uncertain_significance",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000612899.5",
"gene_symbol": "TNFAIP3",
"hgnc_id": 11896,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Ile248Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000763344.1",
"gene_symbol": "ENSG00000287393",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.435-193T>C",
"hgvs_p": null
}
],
"clinvar_disease": " Behcet-like, familial,Autoinflammatory syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 O:1",
"phenotype_combined": "not specified|Autoinflammatory syndrome, familial, Behcet-like|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}